MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (MC5DN4)

Question 1

What is  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (MC5DN4)?

Accepted Answer

very rare

autosomal recessive

mutation in the ATP5A1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615228

Question 3

Which enzymes are involved?

Accepted Answer

ATP synthase subunit alpha, mitochondrial

Disease	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 (MC5DN4)
OMIM	615228 OMIM = Online Mendelian Inheritance of Men
Orphanet	254913
Protein (UniProt)	ATP synthase subunit alpha, mitochondrial
Gene locus	18q21.1
ICD
Summary	very rare autosomal recessive mutation in the ATP5A1 gene
Laboratory findings	no specific laboratory findings (P, S, U ,CSF) ()
Symptoms	apnea early death encephalopathy high pitched cry irritability MRI, brain, abnormalities [-] nystagmus onset, neonatal screaming or crying, abnormal seizures