Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Mercaptolactace-cysteine disulfiduria
Introduction
Synonyms and keywords: Amopla syndrome; Disulfiduria mixed.
Overview
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
Pathophysiology
Mercaptolactace-cysteine disulfiduria is inherited as an autosomal recessive disease.[2]
Diagnosis
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]
Editor-In-Chief:
C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Jyostna Chouturi, M.B.B.S [2]