Tyrosinemia

Tyrosinemia
Classification and external resources
Tyrosine
ICD-10	E 70.2
ICD-9	270.2
OMIM	276700 276600 276710
DiseasesDB	13478 13486 29836
eMedicine	ped/2339
MeSH	D020176

Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body cannot effectively break down the amino acid tyrosine. Symptoms include liver and kidney disturbances and mental retardation. Untreated, tyrosinemia can be fatal.

Most inborn forms of tyrosinemia produce hypertyrosinemia (high levels of tyrosine).^[1]

1 Types
2 Treatment
3 See also
4 References
5 External links

Types

There are three types of tyrosinemia, each with distinctive symptoms and caused by the deficiency of a different enzyme.

Treatment

Treatment varies depending on the specific type. A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.

References

^ Charles Scriver, Beaudet, A.L., Valle, D., Sly, W.S., Vogelstein, B., Childs, B., Kinzler, K.W. (Accessed 2007). The Online Metabolic and Molecular Bases of Inherited Disease. Chapter 79. New York: McGraw-Hill.

External links

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

Contents

Types

Treatment

See also

References

External links