Glycogen Storage Disorders

Glycogen storage disorders (GSDs) are genetic defects leading to disorders of carbohydrate metabolism. The disorders are caused by pathogenic variants in genes that affect enzymes Enzymes Enzymes are complex protein biocatalysts that accelerate chemical reactions without being consumed by them. Due to the body's constant metabolic needs, the absence of enzymes would make life unsustainable, as reactions would occur too slowly without these molecules. Basics of Enzymes involved in glycogen breakdown. Deficiency of 1 of these enzymes Enzymes Enzymes are complex protein biocatalysts that accelerate chemical reactions without being consumed by them. Due to the body's constant metabolic needs, the absence of enzymes would make life unsustainable, as reactions would occur too slowly without these molecules. Basics of Enzymes may occur in the liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver or muscles and can cause hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia and/or abnormal glycogen deposition in tissues. Presentations vary from being fatal in the neonatal period to having their initial presentation with symptoms in adulthood. There are at least 14 types of GSDs, and the 4 most common and significant are von Gierke disease, Pompe disease, Cori disease, and McArdle disease. Diagnosis is clinical; detection of glycogen in tissues is by biopsy and confirmed by DNA DNA The molecule DNA is the repository of heritable genetic information. In humans, DNA is contained in 23 chromosome pairs within the nucleus. The molecule provides the basic template for replication of genetic information, RNA transcription, and protein biosynthesis to promote cellular function and survival. DNA Types and Structure analysis. Management aims to treat or avoid hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia, hyperuricemia, hyperlipidemia (HLD), and lactic acidosis. No cure is currently available, but genetic therapies are being tested.

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Overview

Definition

Glycogen storage disorders (GSDs) are genetic defects causing enzyme deficiencies that result in liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver, muscle, or heart disease from abnormal glycogen deposition in tissues and episodic hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia (in most disorders), as the body cannot use glycogen as a source of energy.

Epidemiology

  • Overall approximately 1 case per 20,000–40,000 live births in the US
  • GSD I incidence: 1 in 100,000 births
    • Incidence 1 in 20,000 Ashkenazi Jews
    • Affects both sexes equally
  • GSD III more frequent in individuals of North African Jewish descent
  • GSD VI more common in the Old Order Mennonite population than the general population

Classification

  • GSD 0: Glycogen synthase deficiency
  • GSD I (von Gierke disease): lack of the enzyme glucose-6-phosphatase (G6Pase)
  • GSD II (Pompe disease): deficiency of the enzyme alpha-1,4-glucosidase
  • GSD III (Cori disease): deficiency of glycogen debranching enzyme
  • GSD IV (Andersen disease): deficiency of glycogen branching enzyme
  • GSD V (McArdle disease): deficiency of muscle glycogen phosphorylase
  • GSD VI (Hers disease): hepatic glycogen phosphorylase deficiency
  • GSD VII (Tarui disease): phosphofructokinase (PFK) deficiency
  • GSD IX: deficiency in phosphorylase kinase
  • GSD X: deficiency in phosphoglycerate (PG) mutase
  • GSD XI: deficiency of muscle lactate dehydrogenase (LDH)
  • GSD XII: aldolase A deficiency
  • GSD XIII: beta-enolase deficiency
  • GSD XV: glycogenin-1 deficiency

Von Gierke Disease

Glycogen storage disorder I (von Gierke disease) is caused by mutations that lead to enzyme deficiencies; these result in excess glycogen and fat accumulation in tissues and hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia.

Etiology

  • Both are autosomal recessive
  • GSD type 1a: 
    • Mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations in G6PC gene → deficiency of the enzyme G6Pase in 80% of patients
    • A mutation in the SLC37A4  gene causes the same deficiency in the other 20%.
  • GSD type 1b: mutation in glucose-6-phosphate transporter

Clinical presentation

  • Generally similar between both types
  • Type Ib is also associated with:
    • Chronic neutropenia Neutropenia Neutrophils are an important component of the immune system and play a significant role in the eradication of infections. Low numbers of circulating neutrophils, referred to as neutropenia, predispose the body to recurrent infections or sepsis, though patients can also be asymptomatic. Neutropenia
    • Recurrent bacterial infections
    • Oral and intestinal mucosal ulcers 
  • Manifestations:
    • Mostly related to liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver issues:
      • Hypoglycemia
      • Hepatomegaly
    • Delayed growth and puberty Puberty Puberty is a complex series of physical, psychosocial, and cognitive transitions usually experienced by adolescents (11-19 years of age). Puberty is marked by a growth in stature and the development of secondary sexual characteristics, achievement of fertility, and changes in most body systems. Puberty
    • Diarrhea Diarrhea Diarrhea is defined as ≥ 3 watery or loose stools in a 24-hour period. There are a multitude of etiologies, which can be classified based on the underlying mechanism of disease. The duration of symptoms (acute or chronic) and characteristics of the stools (e.g., watery, bloody, steatorrheic, mucoid) can help guide further diagnostic evaluation. Diarrhea caused by pseudocolitis; steatorrhea
    • Epistaxis due to impaired platelet function
    • Abdominal distension
    • Round cheeks (caused by fat deposits)
    • Xanthomas on extremities due to hyperlipidemia (HLD)
    • Aphthous ulcers
    • HLD

Diagnosis

  • Laboratory studies after a monitored fast:
    • Hypoglycemia
    • Lactic acidosis
    • Low insulin Insulin Insulin is a peptide hormone that is produced by the beta cells of the pancreas. Insulin plays a role in metabolic functions such as glucose uptake, glycolysis, glycogenesis, lipogenesis, and protein synthesis. Exogenous insulin may be needed for individuals with diabetes mellitus, in whom there is a deficiency in endogenous insulin or increased insulin resistance. Insulin
    • ↑ Fatty acids and beta-hydroxybutyrate
    • ↑ Glucagon
    • ↑ Cortisol
    • ↑ Growth hormone (GH)
  • Glucagon and epinephrine fail to increase the blood glucose level (BGL)
  • Liver biopsy with genetic testing or assay for G6Pase level

Management

  • Frequent meals and snacks to prevent hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia
    • Continuous nocturnal gastric infusion
    • Nighttime feedings (cornstarch)
  • Dietary avoidance of galactose and fructose (require G6Pase for metabolism)
  • Allopurinol for hyperuricemia

Complications

  • Hypertension Hypertension Hypertension, or high blood pressure, is a common disease that manifests as elevated systemic arterial pressures. Hypertension is most often asymptomatic and is found incidentally as part of a routine physical examination or during triage for an unrelated medical encounter. Hypertension
  • Renal stones or failure
  • Gout Gout Gout is a heterogeneous metabolic disease associated with elevated serum uric acid levels (> 6.8 mg/dL) and abnormal deposits of monosodium urate in tissues. The condition is often familial and is initially characterized by painful, recurring, and usually monoarticular acute arthritis, or "gout flare," followed later by chronic deforming arthritis. Gout
  • Seizures Seizures A seizure is abnormal electrical activity of the neurons in the cerebral cortex that can manifest in numerous ways depending on the region of the brain affected. Seizures consist of a sudden imbalance that occurs between the excitatory and inhibitory signals in cortical neurons, creating a net excitation. The 2 major classes of seizures are focal and generalized. Seizures
  • Respiratory distress due to metabolic acidosis Metabolic acidosis The renal system is responsible for eliminating the daily load of non-volatile acids, which is approximately 70 millimoles per day. Metabolic acidosis occurs when there is an increase in the levels of new non-volatile acids (e.g., lactic acid), renal loss of HCO3-, or ingestion of toxic alcohols. Metabolic Acidosis
  • Hepatic adenoma

Prognosis

  • Early diagnosis and treatment can result in normal growth and puberty Puberty Puberty is a complex series of physical, psychosocial, and cognitive transitions usually experienced by adolescents (11-19 years of age). Puberty is marked by a growth in stature and the development of secondary sexual characteristics, achievement of fertility, and changes in most body systems. Puberty.
  • Affected women have had successful pregnancies and childbirth.

Pompe Disease

Glycogen storage disorder II (Pompe disease) is an autosomal recessive Autosomal recessive Autosomal inheritance, both dominant and recessive, refers to the transmission of genes from the 22 autosomal chromosomes. Autosomal recessive diseases are only expressed when 2 copies of the recessive allele are inherited. Autosomal Recessive and Autosomal Dominant Inheritancelysosomal storage disorder caused by a pathogenic variant in GAA. The defect results in an enzyme deficiency of alpha-glucosidase, with subsequent glycogen accumulation in cardiac and skeletal muscle.

Clinical presentation

  • Infantile onset: 
    • Part of the newborn Newborn A neonate, or newborn, is defined as a child less than 28 days old. A thorough physical examination should be performed within the first 24 hours of life to identify abnormalities and improve outcomes by offering timely treatment. Physical Examination of the Newborn screening panel in many states in the US
    • Onset before 12 months of age with:
      • Hypotonia
      • Generalized muscle weakness
      • Feeding difficulties
      • Failure to thrive Failure to Thrive Failure to thrive (FTT), or faltering growth, describes suboptimal weight gain and growth in children. The majority of cases are due to inadequate caloric intake; however, genetic, infectious, and oncological etiologies are also common. Failure to Thrive (FTT)
      • Respiratory distress
      • Fatigue due to hypertrophic cardiomyopathy Hypertrophic Cardiomyopathy Hypertrophic cardiomyopathy (HCM) is the most commonly inherited cardiomyopathy, which is characterized by an asymmetric increase in thickness (hypertrophy) of the left ventricular wall, diastolic dysfunction, and often left ventricular outflow tract obstruction. Hypertrophic Cardiomyopathy (HCM)
  • Late onset:
    • After 12 months of age (or before 12 months of age without cardiomyopathy (CM))
    • Characterized by:
      • Proximal muscle weakness
      • Respiratory insufficiency
      • No significant cardiac involvement
  • No hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia (as in GSD I); this disorder affects mostly muscle and heart

Diagnosis

  • Newborn testing of acid alpha-glucosidase enzyme activity on dried blood spots
  • Confirmation by pathogenic variants in GAA on molecular genetic testing

Management

  • Enzyme replacement treatment (ERT) with alglucosidase alfa
    • Reduces death by 79%–95%
    • Reduces need for invasive ventilation
    • Improves cardiomyopathy and motor skills
  • Respiratory support if needed: continuous positive airway pressure (CPAP), BiPap, and/or tracheostomy
  • Physical and occupational therapy for muscle weakness
  • Genetic counseling for families
  • Prevent secondary complications by:
    • Managing infections aggressively
    • Keeping immunizations up to date
    • Prophylaxis for respiratory syncytial virus Respiratory Syncytial Virus Respiratory syncytial virus (RSV) is an enveloped, single-stranded, linear, negative-sense RNA virus of the family Paramyxoviridae and the genus Orthopneumovirus. Two subtypes (A and B) are present in outbreaks, but type A causes more severe disease. Respiratory syncytial virus causes infections of the lungs and respiratory tract. Respiratory Syncytial Virus ( RSV RSV Respiratory syncytial virus (RSV) is an enveloped, single-stranded, linear, negative-sense RNA virus of the family Paramyxoviridae and the genus Orthopneumovirus. Two subtypes (A and B) are present in outbreaks, but type A causes more severe disease. Respiratory syncytial virus causes infections of the lungs and respiratory tract. Respiratory Syncytial Virus): palivizumab until age 2
  • Routine monitoring:
    • Respiratory, cardiovascular, and musculoskeletal status
    • Nutrition and feeding
    • Renal function
    • Hearing testing for sensorineural hearing loss Hearing loss Hearing loss, also known as hearing impairment, is any degree of impairment in the ability to apprehend sound as determined by audiometry to be below normal hearing thresholds. Clinical presentation may occur at birth or as a gradual loss of hearing with age, including a short-term or sudden loss at any point. Hearing Loss (SNHL)
  • Avoid harmful circumstances:
    • Volume depletion
    • Exposure to infection
    • Agents that worsen left ventricular outflow obstruction:
      • Digoxin
      • Inotropes
      • Diuretics
      • Afterload-reducing agents
  • Experimental gene therapy strategies: currently being developed

Prognosis

  • Infantile onset:
    • Death from heart failure before 1 year if not treated
    • ERT improves survival.
  • Late-onset disease:
    • If diagnosed in childhood → survival up to age 30
    • If diagnosed in adulthood → survival to 50–60 years of age

Cori Disease

Glycogen storage disorder III (Cori disease) is caused by a deficiency in glycogen debranching enzymes Enzymes Enzymes are complex protein biocatalysts that accelerate chemical reactions without being consumed by them. Due to the body's constant metabolic needs, the absence of enzymes would make life unsustainable, as reactions would occur too slowly without these molecules. Basics of Enzymes and leads to glycogen deposition in the liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver, muscle, and heart.

Etiology

  • Mutation Mutation Genetic mutations are errors in DNA that can cause protein misfolding and dysfunction. There are various types of mutations, including chromosomal, point, frameshift, and expansion mutations. Types of Mutations to amylo-alpha-1,6-glucosidase (debranching enzyme)
  • Autosomal recessive

Clinical presentation

  • Symptoms start in the 1st few years of life.
  • Hypoglycemia
  • Hepatomegaly, elevated liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver enzymes Enzymes Enzymes are complex protein biocatalysts that accelerate chemical reactions without being consumed by them. Due to the body's constant metabolic needs, the absence of enzymes would make life unsustainable, as reactions would occur too slowly without these molecules. Basics of Enzymes
  • Cardiomegaly

Diagnosis

  • Elevated CK levels
  • Muscle of liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver biopsy 
  • Genetic analysis

Management

  • Dietary: high-protein diet
  • Medications
    • IV glucose if needed
    • Vitamin D to prevent bone Bone Bone is a compact type of hardened connective tissue composed of bone cells, membranes, an extracellular mineralized matrix, and central bone marrow. The 2 primary types of bone are compact and spongy. Structure of Bones disease
  • Referrals: nutritional consult 
  • Surgery: hepatic transplant for severe cases

Complications

  • Hepatic adenomas and carcinomas
  • Cardiac arrhythmias
  • Polycystic ovaries Ovaries Ovaries are the paired gonads of the female reproductive system that contain haploid gametes known as oocytes. The ovaries are located intraperitoneally in the pelvis, just posterior to the broad ligament, and are connected to the pelvic sidewall and to the uterus by ligaments. These organs function to secrete hormones (estrogen and progesterone) and to produce the female germ cells (oocytes). Ovaries without impact on fertility (successful pregnancy Pregnancy Pregnancy is the time period between fertilization of an oocyte and delivery of a fetus approximately 9 months later. The 1st sign of pregnancy is typically a missed menstrual period, after which, pregnancy should be confirmed clinically based on a positive β-hCG test (typically a qualitative urine test) and pelvic ultrasound. Pregnancy: Diagnosis, Maternal Physiology, and Routine Care is possible)

McArdle Disease

Glycogen storage disease V (McArdle disease), also known as myophosphorylase deficiency, is an autosomal-recessive disorder caused by mutations in the muscle isoform of phosphorylase (muscle glycogen phosphorylase, or PYGM) located at 11q13.

Clinical presentation

  • Symptoms begin in childhood between infancy and 11 years of age; diagnosis is often delayed until adulthood.
    • Exercise-induced muscle pain Pain Pain has accompanied humans since they first existed, first lamented as the curse of existence and later understood as an adaptive mechanism that ensures survival. Pain is the most common symptomatic complaint and the main reason why people seek medical care. Physiology of Pain and cramps in the 1st few minutes
    • “2nd wind”: 
      • After brief exercise causing pain Pain Pain has accompanied humans since they first existed, first lamented as the curse of existence and later understood as an adaptive mechanism that ensures survival. Pain is the most common symptomatic complaint and the main reason why people seek medical care. Physiology of Pain, can resume with little or no discomfort
      • Occurs after the 1st 10 minutes of exertion due to alternative energy source utilization (e.g., fatty acids)
    • Often misdiagnosed as “growing pains”—psychological or other rheumatic/neuromuscular disorders
  • Rhabdomyolysis Rhabdomyolysis Rhabdomyolysis is characterized by muscle necrosis and the release of toxic intracellular contents, especially myoglobin, into the circulation. Rhabdomyolysis acute kidney injury Acute Kidney Injury Acute kidney injury refers to sudden and often reversible loss of renal function, which develops over days or weeks. Azotemia refers to elevated levels of nitrogen-containing substances in the blood that accompany AKI, which include BUN and creatinine. Acute Kidney Injury from myoglobinuria
  • Laboratory findings:
    • Myoglobinuria 
    • Elevated CK

Diagnosis

  • Forearm Forearm The forearm is the region of the upper limb between the elbow and the wrist. The term "forearm" is used in anatomy to distinguish this area from the arm, a term that is commonly used to describe the entire upper limb. The forearm consists of 2 long bones (the radius and the ulna), the interosseous membrane, and multiple arteries, nerves, and muscles. Forearm exercise test 
    • Nonischemic test of 1-second handgrips every other second for 1 minute
    • A flat venous lactate curve with an increase in ammonia is diagnostic.
  • Muscle biopsy: 
    • Histologic staining shows a lack of myophosphorylase.
    • May have up to 10% normal residual enzyme activity
    • A biopsy may also show regenerating fibers with a fetal isozyme that is immunologically different from mature muscle phosphorylase.
  • Genetic testing ( DNA DNA The molecule DNA is the repository of heritable genetic information. In humans, DNA is contained in 23 chromosome pairs within the nucleus. The molecule provides the basic template for replication of genetic information, RNA transcription, and protein biosynthesis to promote cellular function and survival. DNA Types and Structure sequencing): mutations in the PYGM gene

Management

  • Supervised exercise to gradually increase exercise capacity
  • Minimal benefit in exercise tolerance with:
    • Oral sucrose or carbohydrate-rich diet
    • Supplementation with creatine (controversial)

Complications

  • Kidney failure
  • Compartment syndrome Compartment Syndrome Compartment syndrome is a surgical emergency usually occurring secondary to trauma. The condition is marked by increased pressure within a compartment that compromises the circulation and function of the tissues within that space. Compartment Syndrome (CS)

Comparison Table

von Gierke (GSD I) Pompe (GSD II) Cori (GSD III) McArdle (GSD V)
Presentation
  • Mostly related to liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver issues: hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia, hepatomegaly, HLD
  • Other: lactic acidosis, delayed growth, seizures, renal failure, hyperuricemia
  • No weakness
  • Mostly related to heart issues: cardiomegaly, CM, heart failure
  • FTT, poor feeding, hepatomegaly
  • Hypotonia, muscle weakness, delayed motor skills
  • Respiratory distress, pulmonary infections
  • No hypoglycemia Hypoglycemia Hypoglycemia is an emergency condition defined as a serum glucose level ≤ 70 mg/dL (≤ 3.9 mmol/L) in diabetic patients. In nondiabetic patients, there is no specific or defined limit for normal serum glucose levels, and hypoglycemia is defined mainly by its clinical features. Hypoglycemia
  • Hypoglycemia
  • FTT, hypotonia, muscular disease
  • Cardiomegaly
  • Mostly related to muscle issues: muscle pain Pain Pain has accompanied humans since they first existed, first lamented as the curse of existence and later understood as an adaptive mechanism that ensures survival. Pain is the most common symptomatic complaint and the main reason why people seek medical care. Physiology of Pain, fatigue, “2nd wind” phenomenon
  • Kidney injury due to myoglobinuria
Diagnosis
  • Monitored fasting
  • Liver biopsy
  • Skin Skin The skin, also referred to as the integumentary system, is the largest organ of the body. The skin is primarily composed of the epidermis (outer layer) and dermis (deep layer). The epidermis is primarily composed of keratinocytes that undergo rapid turnover, while the dermis contains dense layers of connective tissue. Structure and Function of the Skin or muscle biopsy for acid glucosidase activity
  • Muscle or liver Liver The liver is the largest gland in the human body. The liver is found in the superior right quadrant of the abdomen and weighs approximately 1.5 kilograms. Its main functions are detoxification, metabolism, nutrient storage (e.g., iron and vitamins), synthesis of coagulation factors, formation of bile, filtration, and storage of blood. Liver biopsy
  • Genetic analysis
  • Muscle biopsy for myophosphorylase
  • DNA DNA The molecule DNA is the repository of heritable genetic information. In humans, DNA is contained in 23 chromosome pairs within the nucleus. The molecule provides the basic template for replication of genetic information, RNA transcription, and protein biosynthesis to promote cellular function and survival. DNA Types and Structure sequencing for PYGM
Management
  • Frequent meals and snacks
  • Alglucosidase alfa
  • High-protein diet
  • Hepatic transplantation for severe cases
  • Supervised exercise
  • Pre-exercise glucose intake
PYGM = gene for muscle glycogen phosphorylase

References

  1. Hahn, S. (2020). Myophosphorylase deficiency (glycogen storage disease V, McArdle disease). UpToDate. Retrieved December 7, 2021, from https://www.uptodate.com/contents/myophosphorylase-deficiency-glycogen-storage-disease-v-mcardle-disease
  2. Marion, RW, & Paljevic, E. (2020). The glycogen storage disorders. Pediatrics in Review. 41 (1) 41-44. https://doi.org/10.1542/pir.2018-0146
  3. Kishnani, P, Austin, S, Abdenur, J, et al. (2014). Diagnosis and management of glycogen storage disease type I: A practice guideline of the American College of Medical Genetics and Genomics. Genet Med 16, e1. https://doi.org/10.1038/gim.2014.128
  4. Leslie, N, & Bailey, L. (2017). Pompe disease. Gene Reviews. Retrieved December 7, 2021, from https://www.ncbi.nlm.nih.gov/books/NBK1261/
  5. Craigen, WJ, & Darras, BT. (2021). Overview of inherited disorders of glucose and glycogen metabolism. UpToDate. Retrieved December 7, 2021, from https://www.uptodate.com/contents/overview-of-inherited-disorders-of-glucose-and-glycogen-metabolism

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