Mercaptolactace-cysteine disulfiduria: Difference between revisions
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==Overview== | ==Overview== | ||
Mercaptolactace-cysteine disulfiduria is an autosomal recessive disease characterised by flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures. | Mercaptolactace-cysteine disulfiduria is an autosomal recessive disease characterised by flat nasal bridge, high arched palate,Placid, hypokinetic, mental retardation, grand malseizures.<ref>http://omim.org/clinicalSynopsis/249650</ref> | ||
==Pathophysiology== | ==Pathophysiology== | ||
Mercaptolactace-cysteine disulfiduria is inherited as an autosomal recessive disease. | Mercaptolactace-cysteine disulfiduria is inherited as an autosomal recessive disease.<ref>http://omim.org/clinicalSynopsis/249650</ref> | ||
==Diagnosis== | ==Diagnosis== | ||
===Symptoms=== | ===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.<ref>http://omim.org/clinicalSynopsis/249650</ref> | ||
===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.<ref>http://omim.org/clinicalSynopsis/249650</ref> | ||
==References== | |||
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Latest revision as of 21:19, 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 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]