COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (COXPD44)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (COXPD44)?

Accepted Answer

rare

autosomal recessive

mutation in the FASTKD2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618855

Question 3

Which enzymes are involved?

Accepted Answer

combined oxidative phosphorylation deficiency

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44 (COXPD44)
Synonym	FASTKD2
OMIM	618855 OMIM = Online Mendelian Inheritance of Men
Orphanet	166105
ExPASy	---
Gene locus	2q33.3
ICD	G71,3
Summary	rare autosomal recessive mutation in the FASTKD2 gene
Laboratory findings	L-Lactic acid inc (serum) L-Lactic acid inc (cerebrospinal fluid)
Symptoms	abnormal movement basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy defect of walking, running, rising or climbing developmental delay dysarthria dystonia epilepsy feeding difficulties, poor feeding hypertonia, spasticity hyporeflexia hypotonia nystagmus onset, childhood onset, infancy optic atrophy seizures speech development, delayed, abnormal status epilepticus strabismus strokelike episodes