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Tyrosine Transaminase Deficiency Disease

Known as: Tat Deficiencies, TAT DEFICIENCY, Richner Hanhart Syndrome 
Tyrosinemia caused by mutation(s) in the TAT gene, encoding tyrosine aminotransferase. The inheritance is autosomal recessive.
National Institutes of Health

Related topics

Related topics

6 relations
Metabolic disorder being monitored:Prid:Pt:Bld.dot:NomTAT geneTAT, IVS2AS, A-G, -5TYROSINE AMINOTRANSFERASE

Broader (1)

Tyrosinemias

Papers overview

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Highly Cited
2001
Highly Cited
2001
Tyrosinemia type II: nine cases of ocular signs and symptoms.
Review
1995
Review
1995
Painful keratoderma and photophobia: hallmarks of tyrosinemia type II.
Review
1995
Review
1995
Richner-Hanhart syndrome (tyrosinemia type II). Case report and literature review.
Richner-Hanhart syndrome (Tyrosinemia Type II) is an autosomal recessive disorder of amino acid metabolism characterized by… 
1986
1986
Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia
ConclusionsType II tyrosinaemia in Italy has no regional preponderance. Neuromotor retardation and/or microcephaly seem to be… 
1984
1984
Ocular melanin pigmentation anomalies in cats, cattle, mink, and mice with Chediak-Higashi syndrome: histologic observations.
The Chediak-Higashi syndrome (CHS) is a hereditary disorder of man, with the homologous condition reported in five animal species… 
1982
1982
Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome.
1981
1981
Richner‐Hanhart syndrome (tyrosinaemia‐II) (report of four cases without ocular involvement)
Four cases of tyrosinaemia with cutaneous manifestations, but without ocular involvement, are reported in a family with… 
Highly Cited
1976
Highly Cited
1976
Defective excision repair of γ-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts
ATAXIA telangiectasia (AT) (Louis–Bar syndrome) is a rare human neurovascular disease displaying an autosomal recessive pattern… 
1972
1972
Oculocutaneous melanosis associated with the Sturge‐Weber syndrome
THE STUHGE-T'\'EBER SWJDROME, 01 encephalotrigeminal angiomatosis, is characterized by a port-wine stain, or newis flammeus, of… 
Highly Cited
1971
Highly Cited
1971
Metabolic Studies in a Patient with Hepatic Cytosol Tyrosine Aminotransferase Deficiency
Extract: Metabolic studies on a patient having multiple congenital anomalies and defective hepatic soluble tyrosine… 
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