COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6?

Accepted Answer

rare
X-linked recessive
mutation in the AIFM1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 6

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300816

Question 4

Which enzymes are involved?

Accepted Answer

Apoptosis-inducing factor 1, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6; COXPD6
Synonym	ENCEPHALOMYOPATHY, MITOCHONDRIAL, X-LINKED
OMIM	300816 OMIM = Online Mendelian Inheritance of Men
Orphanet	238329
Protein (UniProt)	Apoptosis-inducing factor 1, mitochondrial
Gene locus	Xq26.1
ICD	G31.81
Summary	rare X-linked recessive mutation in the AIFM1 gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma) Pyruvic acid inc (serum) Pyruvic acid inc (cerebrospinal fluid)
Symptoms	areflexia decreased spontaneous movements developmental regression early death hyporeflexia hypotonia lactic acidosis MRI, brain, abnormalities [-] muscle atrophy muscle weakness neuropathy onset, infancy psychomotor regression psychomotor retardation respiratory insufficiency seizures