MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY

Question 1

What is  MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY?

Accepted Answer

rare
autosomal recessive

mutation in the ATPAF2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Isolierter Atmungskettendefekt im Komplex V; ATP-Synthase-Mangel, isolierter

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 604273

Question 4

Which enzymes are involved?

Accepted Answer

ATP synthase mitochondrial F1 complex assembly factor 2

Disease	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY
Synonym	ATP SYNTHASE DEFICIENCY
OMIM	604273 OMIM = Online Mendelian Inheritance of Men
Orphanet	254913
Protein (UniProt)	ATP synthase mitochondrial F1 complex assembly factor 2
Gene locus	17p11.2
ICD	E88.8
Summary	rare autosomal recessive mutation in the ATPAF2 gene
Laboratory findings	L-Lactic acid inc (plasma) 3-Methylglutaconic acid normal/inc (urine)
Symptoms	cardiomegaly cardiomyopathy lactic acidosis cardiomyopathy, hypertrophic dysmorphism epilepsy failure to thrive hypotonia intrauterine growth retardation psychomotor retardation small for gestational age (SGA), intrauterine growth retardation (IUGR) early death hepatomegaly (large liver) hyperammonemia microcephaly (<2 SD for age) onset, childhood onset, infancy seizures short stature