COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18?

Accepted Answer

rare
autosomal recessive
mutation in the SFXN4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 18

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615578

Question 4

Which enzymes are involved?

Accepted Answer

Sideroflexin-4

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 18; COXPD18
OMIM	615578 OMIM = Online Mendelian Inheritance of Men
Orphanet	391348
Protein (UniProt)	Sideroflexin-4
Gene locus	10q26.11
ICD	E88.8
Summary	rare autosomal recessive mutation in the SFXN4 gene
Laboratory findings	Ammonia inc (blood) L-Lactic acid inc (plasma)
Symptoms	anemia blindness, visual loss, visual impairment growth retardation, poor growth hyperammonemia hypotonia intellectual disability/intellectual developmental disorder intrauterine growth retardation lactic acidosis muscle atrophy onset, infancy onset, neonatal tremor or twitching