Mercaptolactace-cysteine disulfiduria: Difference between revisions

Jump to navigation Jump to search
No edit summary
No edit summary
 
Line 6: Line 6:


==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==
{{reflist|2}}

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]

References