Tyrosinemia Type III

Type III tyrosinemia is a rare disorder caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase (EC 1.13.11.27), encoded by the gene HPD. This enzyme is abundant in the liver, and smaller amounts are found in the kidneys. It is one of a series of enzymes needed to break down tyrosine. Specifically, 4-hydroxyphenylpyruvate dioxygenase converts a tyrosine byproduct called 4-hydroxyphenylpyruvate to homogentisic acid. Characteristic features of type III tyrosinemia include mild mental retardation, seizures, and periodic loss of balance and coordination (intermittent ataxia). Type III tyrosinemia is very rare; only a few cases have been reported.

Inborn error of amino acid metabolism (E70–E72, 270)
K→acetyl-CoA
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
  • 3-Methylglutaconic aciduria 1
Tryptophan
  • Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
  • Sarcosinemia
  • D-Glyceric acidemia
  • Glutathione synthetase deficiency
  • Glycine→Creatine: GAMT deficiency
  • Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
  • Carnosinemia
  • Histidinemia
  • Urocanic aciduria
Proline
  • Hyperprolinemia
  • Prolidase deficiency
Glutamate/glutamine
  • SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
  • Maple syrup urine disease
  • Hypervalinemia
  • Isobutyryl-CoA dehydrogenase deficiency
Isoleucine
  • Maple syrup urine disease
  • Beta-ketothiolase deficiency
  • 2-Methylbutyryl-CoA dehydrogenase deficiency
Methionine
  • Hypermethioninemia
  • Homocystinuria
  • Cystathioninuria
General BC/OA
  • Propionic acidemia
  • Methylmalonic acidemia
  • Methylmalonyl-CoA mutase deficiency
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
  • Tetrahydrobiopterin deficiency
  • 6-Pyruvoyltetrahydropterin synthase deficiency
Tyrosinemia
Tyrosine→Melanin
  • Albinism: Ocular albinism (1)
  • Oculocutaneous albinism (Hermansky–Pudlak syndrome)
  • Waardenburg syndrome
Tyrosine→Norepinephrine
  • Dopamine beta hydroxylase deficiency
  • reverse: Brunner syndrome
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/
IE of RTT
  • Solute carrier family: Cystinuria
  • Hartnup disease
  • Lysinuric protein intolerance
  • Iminoglycinuria
  • Fanconi syndrome: Oculocerebrorenal syndrome
  • Cystinosis
Other
  • Trimethylaminuria
  • 2-Hydroxyglutaric aciduria
  • Fumarase deficiency
  • Ethylmalonic encephalopathy

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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