MAPLE SYRUP URINE DISEASE, MILD VARIANT (MSUDMV)

Question 1

What is  MAPLE SYRUP URINE DISEASE, MILD VARIANT (MSUDMV)?

Accepted Answer

very rare
autosomal recessive
mutation in the PPM1K gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Ahornsirup-Krankheit, intermediäre

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615135

Question 4

Which enzymes are involved?

Accepted Answer

Protein phosphatase 1K, mitochondrial

Disease	MAPLE SYRUP URINE DISEASE, MILD VARIANT (MSUDMV)
OMIM	615135 OMIM = Online Mendelian Inheritance of Men
Orphanet	268162
Protein (UniProt)	Protein phosphatase 1K, mitochondrial
ExPASy	3.1.3.16
Gene locus	4q22.2
ICD	E71.0
Summary	very rare autosomal recessive mutation in the PPM1K gene
Laboratory findings	L-Isoleucine inc (plasma) Leucine inc (plasma) Valine inc (plasma)
Symptoms	no clinical symptoms (probably) onset, infancy onset, neonatal