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Hereditary hypertyrosinemia

MedGen UID:
541332
•Concept ID:
C0268486
•
Disease or Syndrome
Synonyms: Hereditary Tyrosinemia; Hereditary Tyrosinemias; Hypertyrosinemia; Tyrosinemia; Tyrosinemia, Hereditary; Tyrosinemias; Tyrosinemias, Hereditary
SNOMED CT: Hereditary hypertyrosinemia (271847005); Tyrosinemia-tyrosiluria hereditary syndrome (271847005); Hereditary tyrosinemia (271847005)

Definition

An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHereditary hypertyrosinemia

Professional guidelines

PubMed

Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.
Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, Coakley K, Scott CR
Genet Med 2017 Dec;19(12) Epub 2017 Aug 3 doi: 10.1038/gim.2017.101. PMID: 28771246Free PMC Article
Newborn Screening for Hereditary Tyrosinemia Type I in Québec: Update.
Giguère Y, Berthier MT
Adv Exp Med Biol 2017;959:139-146. doi: 10.1007/978-3-319-55780-9_13. PMID: 28755192
The Liver in Tyrosinemia Type I: Clinical Management and Course in Quebec.
Halac U, Dubois J, Mitchell GA
Adv Exp Med Biol 2017;959:75-83. doi: 10.1007/978-3-319-55780-9_6. PMID: 28755185

Recent clinical studies

Diagnosis

Four-hydroxyphenylpyruvic acid oxidase deficiency with normal fumarylacetoacetase: a new variant form of hereditary hypertyrosinemia.
Endo F, Kitano A, Uehara I, Nagata N, Matsuda I, Shinka T, Kuhara T, Matsumoto I
Pediatr Res 1983 Feb;17(2):92-6. doi: 10.1203/00006450-198302000-00002. PMID: 6828337

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