Tyrosinemia, Type Iii

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OMIM 53 276710 Disease Ontology 12 DOID:0050727 Orphanet 55 ORPHA69723 UMLS via Orphanet 70 C0268623 ICD10 via Orphanet 33 E70.2

MedGen 39 C0268623 MeSH 41 D020176 SNOMED-CT via HPO 65 258211005 128613002 246545002 313307000 84757009 91175000 86765009 235856003 56595005 more UMLS 69 C0268623

NIH Rare Diseases : ⁴⁹ Tyrosinemia type 3 is a genetic disorder characterized by elevated blood levels of the amino acid tyrosine, a building block of most proteins. This condition is caused by a deficiency of the enzyme 4-hydroxyphenylpyruvate dioxygenase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the HPD gene. Characteristic features include intellectual disability, seizures, and periodic loss of balance and coordination (intermittent ataxia). Tyrosinemia type 3 is inherited in an autosomal recessive manner. Last updated: 2/3/2010

MalaCards based summary : Tyrosinemia, Type Iii, also known as tyrosinemia type iii, is related to tyrosinemia and hawkinsinuria, and has symptoms including seizures, intellectual disability, mild and abnormality of the liver. An important gene associated with Tyrosinemia, Type Iii is HPD (4-Hydroxyphenylpyruvate Dioxygenase), and among its related pathways/superpathways are Amino Acid metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include liver and neutrophil.

Disease Ontology : ¹² A tyrosinemia that has material basis in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine.

OMIM : ⁵³ Tyrosinemia type III is an autosomal recessive disorder caused by a deficiency in the activity of 4-hydroxyphenylpyruvate dioxygenase (HPD) and is characterized by elevated levels of blood tyrosine and massive excretion of its derivatives into urine. Patients with this disorder have mild mental retardation and/or convulsions, with the absence of liver damage (summary by Tomoeda et al., 2000). (276710)

UniProtKB/Swiss-Prot : ⁷¹ Tyrosinemia 3: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, seizures and mild mental retardation.

Clinical features from OMIM:

276710

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