- hepatorenal tyrosinemia
- hereditary tyrosinemia t. type I.
Medical dictionary. 2011.
hepatorenal tyrosinemia
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tyrosinemia type I — an autosomal recessive disorder due to mutation in the FAH gene (locus: 15q23 q25), which encodes fumarylacetoacetase, an enzyme important in tyrosine catabolism. It is characterized by accumulation of succinylacetoacetate and succinylacetone,… … Medical dictionary
List of diseases (H) — A list of diseases in the English wikipedia.DiseasesTOC HaHag Ham* Hageman factor deficiency * Hagemoser Weinstein Bresnick syndrome * Hailey Hailey disease * Hair defect with photosensitivity and mental retardation * Hairy cell leukemia * Hairy… … Wikipedia
metabolic disease — ▪ pathology Introduction any of the diseases or disorders that disrupt normal metabolism, the process of converting food to energy on a cellular (cell) level. Thousands of enzymes participating in numerous interdependent metabolic pathways… … Universalium
succinylacetone — A minor metabolite that is elevated in individuals with tyrosinemia IA. * * * suc·ci·nyl·ac·e·tone (suk″sin əl asґə tōn) the compound formed by decarboxylation of succinylacetoacetate, occurring at elevated levels in… … Medical dictionary
Tirosinemia tipo 1 — Clasificación y recursos externos CIE 10 E … Wikipedia Español
Prominent metabolic diseases — ▪ Table Prominent metabolic diseases disorder cause signs and symptoms treatment cystinosis lysosomal cystine transporter defect rickets, dehydration, stunted growth, kidney disease, corneal deposits supportive therapy, cysteamine, kidney… … Universalium
tyrosinosis — A very rare, possibly heritable disorder of tyrosine metabolism that may be caused by defective formation of p hydroxyphenylpyruvic acid oxidase or of tyrosine transaminase; characterized by enhanced urinary excretion of p hydroxyphenylpyruvic… … Medical dictionary
succinylacetoacetate — suc·ci·nyl·ac·e·to·ac·e·tate (suk″sin əl ə se″to asґə tāt) a compound formed by reduction of fumarylacetoacetate; it occurs at elevated levels in tyrosinemia type I, due to the deficiency of fumarylacetoacetase. It … Medical dictionary
