Revisiting hereditary tyrosinemia Type 1—spectrum of radiological findings
نویسندگان
چکیده
منابع مشابه
Goldenhar syndrome and hereditary tyrosinemia type 1.
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 کاملHereditary Tyrosinemia Type I, Presentation in a Two Month Old
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...
متن کاملClinical utility of nitisinone for the treatment of hereditary tyrosinemia type-1 (HT-1)
Medical therapy for hereditary hepatorenal tyrosinemia (hereditary tyrosinemia type 1, HT-1) with nitisinone was discovered incidentally, and is a by-product of agrochemistry. It blocks the catabolic pathway of tyrosine, thereby leading to a reduction in the accumulation of toxic metabolites in HT-1. It has to be combined with a low-protein diet supplemented with amino acid mixtures devoid of t...
متن کاملClinical, biochemical, and genetic analysis of a Korean neonate with hereditary tyrosinemia type 1.
BACKGROUND Hereditary tyrosinemia type 1 (HT1; MIM 276700) is caused by mutations in the fumarylaceto-acetate hydrolase (FAH) gene, and is the most severe disorder associated with the tyrosine catabolic pathway. HT1 is a very rare disorder and no genetically confirmed case of HT1 in Korea has yet been reported. In this study, we present a Korean neonate with clinical and biochemical features of...
متن کاملHereditary tyrosinemia. Formation of succinylacetone-amino acid adducts
Succinylacetone (SA) (4,6-dioxoheptanoic acid) is an abnormal metabolite produced in patients with hereditary tyrosinemia as a consequence of an inherited deficiency of fumaryl acetoacetate hydrolase activity. Patients with this disease are associated with a number of abnormalities, including aminoaciduria, proteinuria, liver failure, commonly hepatoma, and decreased GSH concentration in the li...
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ژورنال
عنوان ژورنال: BJR|case reports
سال: 2019
ISSN: 2055-7159
DOI: 10.1259/bjrcr.20180001