MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (LPIN1)

Question 1

What is  MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (LPIN1)?

Accepted Answer

rare
autosomal recessive
mutation in the LPIN1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Genetisch bedingte rekurrente Myoglobinurie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 268200

Question 4

Which enzymes are involved?

Accepted Answer

Phosphatidate phosphatase LPIN1

Disease	MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE (LPIN1)
Synonym	LPIN1 DEFICIENCY
OMIM	268200 OMIM = Online Mendelian Inheritance of Men
Orphanet	99845
Protein (UniProt)	Phosphatidate phosphatase LPIN1
ExPASy	3.1.3.4
Gene locus	2p25.1
ICD	R82.1
Summary	rare autosomal recessive mutation in the LPIN1 gene
Laboratory findings	Creatine kinase inc (serum) Myoglobin inc (urine)
Symptoms	hyporeflexia muscle weakness myoglobinuria onset, adolescent onset, childhood pain, muscle red colored urine renal failure, acute/chronic rhabdomyolysis