MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (MEOAL)

Question 1

What is  MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (MEOAL)?

Accepted Answer

very rare

autosomal recessive

mutation in the FDX2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 251900

Question 3

Which enzymes are involved?

Accepted Answer

Ferredoxin-2, mitochondrial

Disease	MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (MEOAL)
OMIM	251900 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Ferredoxin-2, mitochondrial
Gene locus	19p13.2
ICD
Summary	very rare autosomal recessive mutation in the FDX2 gene
Laboratory findings	3-Methylglutaconic acid inc (urine) Creatine kinase normal/inc (serum) L-Lactic acid inc (urine) L-Lactic acid inc (plasma) Myoglobin inc (urine)
Symptoms	anemia defect of walking, running, rising or climbing exercise intolerance hypothyroidism lactic acidosis learning disability leukoencephalopathy muscle cramps muscle weakness neuropathy nystagmus onset, childhood onset, infancy optic atrophy pain, muscle peripheral neuropathy ptosis (drooping eyelid) rhabdomyolysis