Mercaptolactace-cysteine disulfiduria: Difference between revisions
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==Diagnosis== | ==Diagnosis== | ||
== | ===Symptoms=== | ||
clinical features are flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures. | clinical features are flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures. | ||
==Laboratory findings== | ===Laboratory findings=== | ||
Lab findings are aminoaciduria, beta-mercaptolactate-cysteine disulfiduria, mercaptopyruvate sulfurtransferase (MST) deficiency, excess urinary mercaptolactate, excess urinary mercaptoacetate. | Lab findings are aminoaciduria, beta-mercaptolactate-cysteine disulfiduria, mercaptopyruvate sulfurtransferase (MST) deficiency, excess urinary mercaptolactate, excess urinary mercaptoacetate. | ||
Revision as of 14:48, 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 inheres as 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.