Tyrosinemia type II

Tyrosinemia type II
Classification and external resources
Tyrosine
ICD-10	E 70.2
ICD-9	270.2
OMIM	276600
DiseasesDB	13486
eMedicine	ped/2339
MeSH	D020176

Tyrosinemia type II (Oculocutaneous tyrosinemia,^[1] Richner-Hanhart syndrome^[1]^:543) is an autosomal recessive condition with onset between ages 2 and 4 years, when painful circumscribed calluses develop on the pressure points of the palm of the hand and sole of the foot.^[2]^:512

Pathophysiology

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 challenged. Type II tyrosinemia occurs in fewer than 1 in 250,000 individuals.

References

^ ^a ^b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0721629210.
^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0071380760.

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→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	Type II tyrosinemia · Type III tyrosinemia/Hawkinsinuria · Alkaptonuria/Ochronosis · Type I 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

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)

Tyrosinemia type II

Pathophysiology

See also

References