Hereditary tyrosinemia type I. Self-induced correction of the fumarylacetoacetase defect.
نویسندگان
چکیده
منابع مشابه
A novel mutation causing mild, atypical fumarylacetoacetase deficiency (Tyrosinemia type I): a case report
A male patient, born to unrelated Belgian parents, presented at 4 months with epistaxis, haematemesis and haematochezia. On physical examination he presented petechiae and haematomas, and a slightly enlarged liver. Serum transaminases were elevated to 5-10 times upper limit of normal, alkaline phosphatases were 1685 U/L (<720), total bilirubin was 2.53 mg/dl (<1.0), ammonaemia 69 microM (<32), ...
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Tyrosinemia is a metabolic disorder which manifests as increased levels of tyrosine in the blood. Hereditary Tyrosinemia Type I is one of the many causes of Tyrosinemia. It is due to the deficiency of the enzyme fumaryl acetoacetate hydrolase which leads to the rise in the serum levels of fumaryl acetoacetate and presents with a variety of different signs and symptoms such as neurological disor...
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We report a case of Goldenhar syndrome and hereditary tyrosinemia type 1 (HTT1), to our knowledge an association not previously described. This case further increases the diversity of observations and clinical descriptions of patients with this complex syndrome. We discuss pathogenetic aspects, and demonstrate further evidence of the effectiveness of 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3-cy...
متن کاملHeat Shock Response Associated with Hepatocarcinogenesis in a Murine Model of Hereditary Tyrosinemia Type I
Hereditary Tyrosinemia type 1 (HT1) is a metabolic liver disease caused by genetic defects of fumarylacetoacetate hydrolase (FAH), an enzyme necessary to complete the breakdown of tyrosine. The severe hepatic dysfunction caused by the lack of this enzyme is prevented by the therapeutic use of NTBC (2-[2-nitro-4-(trifluoromethyl)benzoyl] cyclohexane-1,3-dione). However despite the treatment, chr...
متن کاملEnhancing newborn screening for tyrosinemia type I.
Hepatorenal tyrosinemia, also known as tyrosinemia type I (Tyr-I) is an autosomal recessive inborn error of metabolism. The primary enzyme defect has been attributed to a deficiency of fumarylacetoacetase (EC 3.7.1.2) (1 ). Tyr-I is usually asymptomatic in newborns, but if left untreated it affects liver, kidney, bone, and peripheral nerves; in its most severe form, affected infants may die fro...
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ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1993
ISSN: 0021-9738
DOI: 10.1172/jci116393