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GENATLAS PHENOTYPE

last update : 17-12-2013

Symbol	MSUDMV
Location	4q22.1
Name	maple syrup urine disease, mild variant
Corresponding gene	PPM1K
Main clinical features	increased plasma levels of branched-chain amino acids (BCAA) apparent at birth treatment with a low-protein diet free of BCAA can result in normal psychomotor development and lack of metabolic episodes; however, plasma levels of BCAA may remain elevated
Genetic determination	autosomal recessive
Function/system disorder	metabolism/aminoacids
Type	disease

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