Mercaptolactace-cysteine disulfiduria: Difference between revisions
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==Overview== | ==Overview== | ||
Mercaptolactace-cysteine disulfiduria is | Mercaptolactace-cysteine disulfiduria is an autosomal recessive disease characterised by flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures. | ||
==Pathophysiology== | |||
Mercaptolactace-cysteine disulfiduria is inherited as an autosomal recessive disease. | |||
==Diagnosis== | ==Diagnosis== | ||
Revision as of 19:52, 21 December 2015
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]
Synonyms and keywords: Amopla syndrome; Disulfiduria mixed.
Overview
Mercaptolactace-cysteine disulfiduria is an autosomal recessive disease characterised by flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures.
Pathophysiology
Mercaptolactace-cysteine disulfiduria is inherited as an autosomal recessive disease.
Diagnosis
Symptoms
clinical features are flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures.
Laboratory findings
Lab findings are aminoaciduria, beta-mercaptolactate-cysteine disulfiduria, mercaptopyruvate sulfurtransferase (MST) deficiency, excess urinary mercaptolactate, excess urinary mercaptoacetate.