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.

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.