COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15?

Accepted Answer

rare
autosomal recessive
mutation in the MTFMT gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 15

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614947

Question 4

Which enzymes are involved?

Accepted Answer

Methionyl-tRNA formyltransferase, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15
OMIM	614947 OMIM = Online Mendelian Inheritance of Men
Orphanet	319524
Protein (UniProt)	Methionyl-tRNA formyltransferase, mitochondrial
Gene locus	15q22.31
ICD	G31.8
Summary	rare autosomal recessive mutation in the MTFMT gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid normal/inc (plasma)
Symptoms	ataxia developmental delay gait disturbance heart involvement lactic acidosis microcephaly (<2 SD for age) MRI, brain, abnormalities [-] nystagmus obesity onset, childhood optic atrophy seizures short stature speech development, delayed, abnormal strabismus tremor or twitching