MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (MC5DN3)

Question 1

What is  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (MC5DN3)?

Accepted Answer

very rare

autosomal recessive

mutation in the ATP5E gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 614053

Question 3

Which enzymes are involved?

Accepted Answer

ATP synthase subunit epsilon, mitochondrial

Disease	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3 (MC5DN3)
OMIM	614053 OMIM = Online Mendelian Inheritance of Men
Orphanet	254913
Protein (UniProt)	ATP synthase subunit epsilon, mitochondrial
Gene locus	20q13.32
ICD	E88.8
Summary	very rare autosomal recessive mutation in the ATP5E gene
Laboratory findings	3-Methylglutaconic acid inc (urine) L-Lactic acid inc (serum)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic lactic acidosis mental retardation onset, neonatal peripheral neuropathy