Mercaptolactace-cysteine disulfiduria
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.[1]
Pathophysiology
Mercaptolactace-cysteine disulfiduria is inherited as an autosomal recessive disease.[2]
Diagnosis
Symptoms
clinical features are flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures.[3]
Laboratory findings
Lab findings are aminoaciduria, beta-mercaptolactate-cysteine disulfiduria, mercaptopyruvate sulfurtransferase (MST) deficiency, excess urinary mercaptolactate, excess urinary mercaptoacetate.[4]