Amino acids Acids Chemical compounds which yield hydrogen ions or protons when dissolved in water, whose hydrogen can be replaced by metals or basic radicals, or which react with bases to form salts and water (neutralization). An extension of the term includes substances dissolved in media other than water. Acid-Base Balance are the building blocks of proteins Proteins Linear polypeptides that are synthesized on ribosomes and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of amino acids determines the shape the polypeptide will take, during protein folding, and the function of the protein. Energy Homeostasis, whose production is a tightly regulated enzymatic cascade. Disorders of the 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 amino acid Amino acid Amino acids (AAs) are composed of a central carbon atom attached to a carboxyl group, an amino group, a hydrogen atom, and a side chain (R group). Basics of Amino Acids metabolism are often serious and present early in life. Congenital Congenital Chorioretinitis errors in amino acid Amino acid Amino acids (AAs) are composed of a central carbon atom attached to a carboxyl group, an amino group, a hydrogen atom, and a side chain (R group). Basics of Amino Acids metabolism are due to either impaired synthesis Synthesis Polymerase Chain Reaction (PCR) or degradation. In the United States, neonates are routinely screened at birth for common disorders of amino acid Amino acid Amino acids (AAs) are composed of a central carbon atom attached to a carboxyl group, an amino group, a hydrogen atom, and a side chain (R group). Basics of Amino Acids metabolism, which include phenylketonuria (PKU), maple syrup urine Urine Liquid by-product of excretion produced in the kidneys, temporarily stored in the bladder until discharge through the urethra. Bowen Disease and Erythroplasia of Queyrat disease (MSUD), homocystinuria, tyrosinemia Tyrosinemia A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features intellectual disability, painful corneal ulcers, and keratosis of the palms and plantar surfaces and is caused by a deficiency of the enzyme tyrosine transaminase. Type III tyrosinemia features intellectual disability and is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase. Renal Tubular Acidosis, and alkaptonuria. Symptoms of these conditions often present early in life. Although treatment varies, most of these conditions require dietary changes, and some require protein supplementation or other medication regimens.
Last updated: 12 Apr, 2022
Phenylketonuria (PKU) is an inherited disease that causes an increase in phenylalanine Phenylalanine An essential aromatic amino acid that is a precursor of melanin; dopamine; noradrenalin (norepinephrine), and thyroxine. Synthesis of Nonessential Amino Acids levels in the body due to the inability to metabolize this amino acid Amino acid Amino acids (AAs) are composed of a central carbon atom attached to a carboxyl group, an amino group, a hydrogen atom, and a side chain (R group). Basics of Amino Acids.
Classic phenylketonuria (PKU) is caused by a
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 the
phenylalanine
Phenylalanine
An essential aromatic amino acid that is a precursor of melanin; dopamine; noradrenalin (norepinephrine), and thyroxine.
Synthesis of Nonessential Amino Acids hydroxylase (
PAH
PAH
The glycine amide of 4-aminobenzoic acid. Its sodium salt is used as a diagnostic aid to measure effective renal plasma flow (ERPF) and excretory capacity.
Glomerular Filtration)
gene
Gene
A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.
Basic Terms of Genetics.
Phe:
phenylalanine
Phenylalanine
An essential aromatic amino acid that is a precursor of melanin; dopamine; noradrenalin (norepinephrine), and thyroxine.
Synthesis of Nonessential Amino Acids
PAH
PAH
The glycine amide of 4-aminobenzoic acid. Its sodium salt is used as a diagnostic aid to measure effective renal plasma flow (ERPF) and excretory capacity.
Glomerular Filtration:
phenylalanine
Phenylalanine
An essential aromatic amino acid that is a precursor of melanin; dopamine; noradrenalin (norepinephrine), and thyroxine.
Synthesis of Nonessential Amino Acids hydroxylase
Tyr:
tyrosine
Tyrosine
A non-essential amino acid. In animals it is synthesized from phenylalanine. It is also the precursor of epinephrine; thyroid hormones; and melanin.
Synthesis of Nonessential Amino Acids
HT-2:
tyrosinemia
Tyrosinemia
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features intellectual disability, painful corneal ulcers, and keratosis of the palms and plantar surfaces and is caused by a deficiency of the enzyme tyrosine transaminase. Type III tyrosinemia features intellectual disability and is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase.
Renal Tubular Acidosis II
TAT:
tyrosine
Tyrosine
A non-essential amino acid. In animals it is synthesized from phenylalanine. It is also the precursor of epinephrine; thyroid hormones; and melanin.
Synthesis of Nonessential Amino Acids
transaminase
Transaminase
A subclass of enzymes of the transferase class that catalyze the transfer of an amino group from a donor (generally an amino acid) to an acceptor (generally a 2-keto acid). Most of these enzymes are pyridoxyl phosphate proteins.
Catabolism of Amino Acids
pHPP: p-hydroxyphenylpyruvate
HPD
HPD
Trichotillomania (hair-pulling disorder (HPD)) is defined as repetitive pulling of one’s hair resulting in hair loss that may be visible to others. This disorder is classified under obsessive-compulsive and related disorders, as there is tension prior to the act that is relieved after the hair-pulling.
Trichotillomania: p-hydroxyphenylpyruvate dioxygenase
HT-3:
tyrosinemia
Tyrosinemia
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features intellectual disability, painful corneal ulcers, and keratosis of the palms and plantar surfaces and is caused by a deficiency of the enzyme tyrosine transaminase. Type III tyrosinemia features intellectual disability and is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase.
Renal Tubular Acidosis III
HGA
HGA
Ehrlichiosis and Anaplasmosis: homogentisate
HGD: homogentisate
oxidase
Oxidase
Neisseria
AKU: alcaptonuria
MAA: 4-maleylacetoacetate
MAAI: 4-maleylacetoacetate isomerase
FAA: 4-fumarylacetoacetate
FAH: 4-fumarylacetoacetase
HT-1:
tyrosinemia
Tyrosinemia
A group of disorders which have in common elevations of tyrosine in the blood and urine secondary to an enzyme deficiency. Type I tyrosinemia features episodic weakness, self-mutilation, hepatic necrosis, renal tubular injury, and seizures and is caused by a deficiency of the enzyme fumarylacetoacetase. Type II tyrosinemia features intellectual disability, painful corneal ulcers, and keratosis of the palms and plantar surfaces and is caused by a deficiency of the enzyme tyrosine transaminase. Type III tyrosinemia features intellectual disability and is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase.
Renal Tubular Acidosis I
The blood of a 2-week-old infant is collected for a phenylketonuria (PKU) screening Screening Preoperative Care.
Image: “Phenylketonuria testing” by USAF Photographic Archives. License: Public DomainThis condition cannot be cured and must be managed with dietary modification and medication/supplementation.
A group of genetic disorders of amino acid Amino acid Amino acids (AAs) are composed of a central carbon atom attached to a carboxyl group, an amino group, a hydrogen atom, and a side chain (R group). Basics of Amino Acids metabolism involving branched-chain amino acids Acids Chemical compounds which yield hydrogen ions or protons when dissolved in water, whose hydrogen can be replaced by metals or basic radicals, or which react with bases to form salts and water (neutralization). An extension of the term includes substances dissolved in media other than water. Acid-Base Balance such as leucine, isoleucine, and valine. These disorders are caused by disruption of metabolism of these amino acids Acids Chemical compounds which yield hydrogen ions or protons when dissolved in water, whose hydrogen can be replaced by metals or basic radicals, or which react with bases to form salts and water (neutralization). An extension of the term includes substances dissolved in media other than water. Acid-Base Balance, resulting in accumulation of toxic metabolites that often spill into urine Urine Liquid by-product of excretion produced in the kidneys, temporarily stored in the bladder until discharge through the urethra. Bowen Disease and Erythroplasia of Queyrat.
There are 4 main types of organic acidemia Acidemia Respiratory Acidosis:
The pathophysiology of methylmalonic acidemia Acidemia Respiratory Acidosis is most often due to 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 at either methylmalonyl CoA mutase or methylmalonyl CoA epimerase.
Image by Lecturio.