Type II tyrosinemia

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Type II tyrosinemia Classification and external resources
Tyrosine
ICD-10	E70.2
ICD-9	270.2
OMIM	276600
DiseasesDB	13486
eMedicine	ped/2339
MeSH	D020176

Type II tyrosinemia is caused by a deficiency of the enzyme tyrosine aminotransferase (EC 2.6.1.5), encoded by the gene TAT. Tyrosine aminotransferase is the first in a series of five enzymes that converts tyrosine to smaller molecules, which are excreted by the kidneys or used in reactions that produce energy. This form of the disorder can affect the eyes, skin, and mental development. Symptoms often begin in early childhood and include excessive tearing, abnormal sensitivity to light (photophobia), eye pain and redness, and painful skin lesions on the palms and soles. About half of individuals with type II tyrosinemia are also mentally retarded. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.

v • d • e Inborn errors of amino acid metabolism (E70-72, 270) K Lysine/straight chain Glutaric acidemia type 1 - type 2 - Hyperlysinemia - Pipecolic acidemia - Saccharopinuria Leucine Maple syrup urine disease - Isovaleric acidemia - 3-Methylcrotonyl-CoA carboxylase deficiency - 3-hydroxy-3-methylglutaryl-CoA lyase deficiency G→pyruvate Glycine Sarcosinemia - D-Glyceric acidemia - Glutathione synthetase deficiency G→alpha-ketoglutarate Glutamate/glutamine SSADHD Proline Hyperprolinemia - Prolidase deficiency Histidine Carnosinemia - Histidinemia - Urocanic aciduria G→succinyl-CoA Methionine Hypermethioninemia - Homocystinuria - Cystathioninuria Valine Maple syrup urine disease - Hypervalinemia - Isobutyryl-CoA dehydrogenase deficiency Isoleucine Maple syrup urine disease - Beta-ketothiolase deficiency - 2-Methylbutyryl-CoA dehydrogenase deficiency General BC/OA Propionic acidemia - Methylmalonic acidemia G→fumarate Phenylalanine/tyrosine Phenylketonuria: Tetrahydrobiopterin deficiency - 6-Pyruvoyltetrahydropterin synthase deficiency Tyrosinemia: Type II tyrosinemia - Type III tyrosinemia/Hawkinsinuria - Alkaptonuria/Ochronosis - Type I tyrosinemia G→oxaloacetate Urea cycle/Hyperammonemia (arginine, aspartate) N-Acetylglutamate synthase deficiency - Carbamoyl phosphate synthetase I deficiency - Ornithine transcarbamylase deficiency/translocase deficiency - Citrullinemia - Argininosuccinic aciduria - Argininemia Transport Cystinuria - Hartnup disease - Oculocerebrorenal syndrome - Lysinuric protein intolerance - Inborn errors of renal tubular transport (Cystinosis, Fanconi syndrome) Tyrosine→Melanin Albinism: Ocular albinism - Oculocutaneous albinism (Hermansky-Pudlak syndrome) - Waardenburg syndrome Glycine→Creatine GAMT deficiency Other Trimethylaminuria - 2-Hydroxyglutaric aciduria - Fumarase deficiency see also Amino acid metabolism enzymes, Urea cycle enzymes, intermediates