COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (COXPD1)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (COXPD1)?

Accepted Answer

rare
autosomal recessive

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kombinierter OXPHOS [Oxidative Phosphorylierung]-Defekt Typ 1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609060

Question 4

Which enzymes are involved?

Accepted Answer

Elongation factor G, mitochondrial

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1 (COXPD1)
Synonym	HEPATOENCEPHALOPATHY, EARLY FATAL PROGRESSIVE
OMIM	609060 OMIM = Online Mendelian Inheritance of Men
Orphanet	137681
Protein (UniProt)	Elongation factor G, mitochondrial
Gene locus	3q25.32
ICD	E88.8
Summary	rare autosomal recessive
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (plasma)
Symptoms	abnormal movement ataxia cholestasis decreased spontaneous movements early death encephalopathy feeding difficulties, poor feeding hepatomegaly (large liver) hyperreflexia intrauterine growth retardation lactic acidosis liver failure metabolic acidosis microcephaly (<2 SD for age) nystagmus onset, fetus onset, infancy onset, neonatal ophthalmoparesis psychomotor retardation seizures