TYROSINEMIA I TYPE (LITERATURE REVIEW) WITH A DESCRIPTION OF THE CLINICAL CASE
نویسندگان
چکیده
منابع مشابه
Type 1 Tyrosinemia with Hypophosphatemic Rickets; a Case Report
Background: Tyrosinemia type 1 is an autosomal recessive metabolic disorder, which typically affects liver and kidneys. It is caused by a defect in fumarylacetoacetate hydrolase or fumarylacetoacetase (FAH) enzyme, the final enzyme in the tyrosine degradation pathway. The disease typically manifests as early onset type in early infancy with acute hepatic crisis with hepatomegaly and bleeding te...
متن کاملthe investigation of the relationship between type a and type b personalities and quality of translation
چکیده ندارد.
Tyrosinemia type I: a clinico-laboratory case report.
Progressive hepatocellular dysfunction in a neonate, resulting in elevated serum alpha-fetoprotein together with raised blood levels of tyrosine and methionine, a generalized amino aciduria and the absence of urinary delta-aminolevulinic acid and succinylacetone, suggests a diagnosis of tyrosinemia type Ib. Classical tyrosinemia type I arises from a deficiency of fumarylacetoacetate hydrolase w...
متن کاملA case of metageria with a review of literature
Progeroid syndromes, one of which is metageria, are characterized by signs of premature aging with multiple systemic and skin symptoms. Here we describe an 8-year-old girl with no historyof specific underlying disease in her family, no hair growth at the scalp since she was born, and taller and thinner than her peers. We noticed diffuse subcutaneous fat atrophy. The patientwas refer...
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ژورنال
عنوان ژورنال: Russian Pediatric Journal
سال: 2019
ISSN: 2413-2918,1560-9561
DOI: 10.18821/1560-9561-2019-22-1-57-64