MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (MMLA)

Question 1

What is  MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (MMLA)?

Accepted Answer

very rare

autosomal recessive

mutation in the PNPLA8 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 251950

Question 3

Which enzymes are involved?

Accepted Answer

Calcium-independent phospholipase A2-gamma

Disease	MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS (MMLA)
OMIM	251950 OMIM = Online Mendelian Inheritance of Men
Orphanet	2597
Protein (UniProt)	Calcium-independent phospholipase A2-gamma
Gene locus	7q31.1
ICD	G71.3
Summary	very rare autosomal recessive mutation in the PNPLA8 gene
Laboratory findings	L-Lactic acid inc (serum) Pyruvic acid inc (serum)
Symptoms	defect of walking, running, rising or climbing dysarthria dysmetria dystonia fatigue, severe or unusual hypertonia, spasticity lactic acidosis muscle weakness onset, infancy progressive neurologic defect seizures