Tyrosinemia, Type I

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OMIM 57 276700 Disease Ontology 12 DOID:0050726 Orphanet 59 ORPHA882 UMLS via Orphanet 74 C0268490 ICD10 via Orphanet 34 E70.2

MedGen 42 C0268490 MeSH 44 D020176 SNOMED-CT via HPO 69 258211005 236423003 42399005 197661001 82646005 300444006 48638002 19943007 109841003 187769009 25370001 36440009 432788009 389026000 233873004 45227007 16294009 248250000 64779008 362970003 237630007 271327008 302866003 236468006 44673006 74474003 80515008 55525008 166603001 166643006 75183008 56595005 124283007 43123004 57835009 198030008 66266003 197270009 235884008 more UMLS 73 C0268490

NIH Rare Diseases : ⁵³ Tyrosinemia type 1 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 shortage of the enzyme fumarylacetoacetate hydrolase, one of the enzymes required for the multi-step process that breaks down tyrosine. This enzyme shortage is caused by mutations in the FAH gene. Symptoms usually appear in the first few months of life and include failure to thrive, diarrhea, vomiting, jaundice, cabbage-like odor, and increased tendency to bleed (particularly nosebleeds). Tyrosinemia type I can lead to liver and kidney failure, softening and weakening of the bones, problems affecting the nervous system, and an increased risk of liver cancer. This condition is inherited in an autosomal recessive manner. Treatment should be started as soon as the condition is diagnosed and includes a diet restricted in tyrosine and phenylalanine along with nitisinone, a medication that blocks the second step in the tyrosine degradation pathway.   

MalaCards based summary : Tyrosinemia, Type I, also known as tyrosinemia type i, is related to tyrosinemia and maleylacetoacetate isomerase deficiency. An important gene associated with Tyrosinemia, Type I is FAH (Fumarylacetoacetate Hydrolase), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Tyrosine metabolism. The drug Nitisinone has been mentioned in the context of this disorder. Affiliated tissues include Liver, liver and kidney, and related phenotypes are splenomegaly and hepatomegaly

OMIM : ⁵⁷ Hereditary tyrosinemia type I is an autosomal recessive disorder caused by deficiency of fumarylacetoacetase (FAH), the last enzyme of tyrosine degradation. The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, patients die from cirrhosis or hepatocellular carcinoma at a young age (summary by Bliksrud et al., 2005). (276700)

UniProtKB/Swiss-Prot : ⁷⁵ Tyrosinemia 1: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.

Disease Ontology : ¹² A tyrosinemia that has material basis in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body.

Wikipedia : ⁷⁶ Type 1 tyrosinemia, also known as hepatorenal tyrosinemia or tyrosinosis, is the most severe form of... more...

GeneReviews:

Clinical features from OMIM:

276700

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	8.92	AFP ALAD FAH HPD

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