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Disease Amino Acid Metabolism, Inborn Errors

Name Amino Acid Metabolism, Inborn Errors
Synonyms Amino Acid Metabolism Disorders, Inborn | Amino Acid Metabolism, Inborn Error | Amino Acid Metabolism, Inherited Disorders | Amino Acidopathies, Congenital | Amino Acidopathies, Inborn | Amino Acidopathy, Congenital | Amino Acidopathy, Inborn | Congenital Amino Acidopathies | Congenital Amino Acidopathy | Inborn Amino Acidopathies | Inborn Amino Acidopathy | Inborn Errors, Amino Acid Metabolism | Inherited Errors of Amino Acid Metabolism
Definition Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D000592
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references
2. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references

Top ↑ Descendants

Amino Acid Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references
  2-AMINOADIPIC 2-OXOADIPIC ACIDURIA Has associated chemicals Has associated genes
  2-Methylacetoacetyl CoA thiolase deficiency
  2-Methylbutyryl-CoA Dehydrogenase Deficiency Has associated chemicals Has associated genes
  3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Has associated chemicals Has associated genes
  3-Hydroxyisobutyric aciduria
  5-oxoprolinase deficiency Has associated chemicals Has associated genes
  Acidemia, isovaleric Has associated chemicals Has associated genes
  Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of Has associated chemicals Has associated genes
  Adams Nance syndrome
  Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus
View node Albinism Has associated chemicals Has associated genes
View node Alkaptonuria Has associated chemicals Has associated genes
  Alpha-ketoglutarate dehydrogenase deficiency Has associated chemicals Has associated genes
  Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
  Aminoacylase 1 deficiency Has associated chemicals Has associated genes
  Arakawa syndrome 2
  Arginine:Glycine Amidinotransferase Deficiency Has associated chemicals Has associated genes
  Aromatic amino acid decarboxylase deficiency Has associated chemicals Has associated genes
  Beta-Aminoisobutyric Acid, Urinary Excretion of
  Beta-Hydroxyisobutyryl CoA Deacylase Deficiency Has associated chemicals Has associated genes
  Beta ketothiolase deficiency Has associated chemicals Has associated genes
  Blue diaper syndrome
  Camptodactyly taurinuria
  Carboxypeptidase N Deficiency Has associated chemicals Has associated genes
  Cystathionase Deficiency
  Cysteine Peptiduria
  Diaminopentanuria
  Dibasic Amino Aciduria I
  Dimethylglycine Dehydrogenase Deficiency Has associated chemicals Has associated genes
  Gamma aminobutyric acid transaminase deficiency Has associated chemicals Has associated genes
  Glucoglycinuria
  Glutamate Monosodium Sensitivity
  Glutamine deficiency, congenital Has associated chemicals Has associated genes
  Glutaric Acidemia I Has associated chemicals Has associated genes
  Glutaric Aciduria III Has associated chemicals Has associated genes
  Glutathione synthetase deficiency Has associated chemicals Has associated genes
  Glutathionuria Has associated chemicals Has associated genes
  Glycinuria with or without Oxalate Urolithiasis
  Histidinemia Has associated chemicals Has associated genes
  Homocarnosinosis Has associated chemicals Has associated genes
  Hydroxykynureninuria Has associated chemicals Has associated genes
View node Tyrosinemias Has associated chemicals Has associated genes
  Hydroxyprolinemia
View node Hyperglycinemia, Nonketotic Has associated chemicals Has associated genes
  HYPERGLYCINURIA Has associated chemicals Has associated genes
View node Hyperhomocysteinemia Has associated chemicals Has associated genes Has associated exposure references
  Hyperleucine-Isoleucinemia
View node Hyperlysinemias Has associated chemicals Has associated genes
View node Hypermethioninemia Has associated chemicals Has associated genes
  Hyperprolinemia type 2 Has associated chemicals Has associated genes
  HYPERPROLINEMIA, TYPE I Has associated chemicals Has associated genes
  Hypertaurinuric Cardiomyopathy
  Hypertryptophanemia
  Hypertryptophanemia, Familial
  Ichthyosis, Split Hairs, and Amino Aciduria
  Indolylacroyl Glycinuria with Mental Retardation
  Isobutyryl-CoA dehydrogenase deficiency Has associated chemicals Has associated genes
  Ketoadipicaciduria
  Lysine Malabsorption Syndrome
  Lysinuric Protein Intolerance Has associated chemicals Has associated genes
View node Maple Syrup Urine Disease Has associated chemicals Has associated genes
  Mercaptolactate-Cysteine Disulfiduria
  Methionine Malabsorption Syndrome
  Methylmalonate Semialdehyde Dehydrogenase Deficiency Has associated chemicals Has associated genes
View node Methylmalonic acidemia Has associated chemicals Has associated genes
  Methylmalonic Aciduria and Homocystinuria, CblD Type Has associated chemicals Has associated genes
  Methylmalonic Aciduria and Homocystinuria, CblF Type Has associated chemicals Has associated genes
  Methylmalonic aciduria cblA type Has associated chemicals Has associated genes
  Methylmalonic aciduria cblB type Has associated chemicals Has associated genes
  Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency Has associated chemicals Has associated genes
  Methylmalonyl-CoA Epimerase Deficiency Has associated chemicals Has associated genes
  Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency
  MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) Has associated chemicals Has associated genes
View node Multiple Acyl Coenzyme A Dehydrogenase Deficiency Has associated chemicals Has associated genes
View node Multiple Carboxylase Deficiency Has associated chemicals Has associated genes
  Myopathy due to Malate-Aspartate Shuttle Defect
View node Phenylketonurias Has associated chemicals Has associated genes
  Prolidase Deficiency Has associated chemicals Has associated genes
View node Propionic Acidemia Has associated chemicals Has associated genes
  Richards-Rundle syndrome
  Sarcosinemia Has associated chemicals Has associated genes
  succinic semialdehyde dehydrogenase deficiency Has associated chemicals Has associated genes
  Sulfite oxidase deficiency Has associated chemicals Has associated genes
  Tiglic acidemia
  Tryptophanuria With Dwarfism
  Tyrosinosis
View node Urea Cycle Disorders, Inborn Has associated chemicals Has associated genes
  Urocanase deficiency Has associated chemicals Has associated genes
  Valinemia