NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (NLSDM)

Question 1

What is  NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (NLSDM)?

Accepted Answer

rare

autosomal recessive

mutation in the PNPLA2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 610717

Question 3

Which enzymes are involved?

Accepted Answer

Patatin-like phospholipase domain-containing protein 2

Disease	NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (NLSDM)
Synonym	NEUTRAL LIPID STORAGE DISEASE WITHOUT ICHTHYOSIS
OMIM	610717 OMIM = Online Mendelian Inheritance of Men
Orphanet	98908
Protein (UniProt)	Patatin-like phospholipase domain-containing protein 2
Gene locus	11p15.5
ICD	E75.5
Summary	rare autosomal recessive mutation in the PNPLA2 gene
Laboratory findings	Creatine kinase inc (serum) Triglycerides normal/inc (serum)
Symptoms	areflexia cardiac arrhythmia, dysrhythmia cardiomyopathy defect of walking, running, rising or climbing diabetes mellitus exercise intolerance fasciculations hearing defect, deafness hepatomegaly (large liver) hypotonia muscle cramps muscle weakness myopathy onset, adolescent onset, childhood pain, muscle rhabdomyolysis short stature