Mercaptolactace-cysteine disulfiduria

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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]

References


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