MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (HML, ISCU)

Question 1

What is  MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (HML, ISCU)?

Accepted Answer

rare
autosomal recessive
mutation in the ISCU gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 255125

Question 4

Which enzymes are involved?

Accepted Answer

Iron-sulfur cluster assembly enzyme ISCU, mitochondrial

Disease	MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY (HML, ISCU)
Synonym	ISCU MYOPATHY; MYOPATHY WITH EXERCISE INTOLERANCE, SWEDISH TYPE
OMIM	255125 OMIM = Online Mendelian Inheritance of Men
Orphanet	43115
Protein (UniProt)	Iron-sulfur cluster assembly enzyme ISCU, mitochondrial
Gene locus	12q23.3
ICD	G71.3
Summary	rare autosomal recessive mutation in the ISCU gene
Laboratory findings	Creatine kinase inc (serum) L-Lactic acid inc (serum) Myoglobin inc (urine) Pyruvic acid inc (serum)
Symptoms	cardiac involvement, cardiac defects cardiomyopathy defect of walking, running, rising or climbing dyspnea exercise intolerance lactic acidosis muscle cramps muscle weakness myopathy onset, childhood onset, infancy pain, muscle rhabdomyolysis