COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (COXPD47)

Question 1

What is  COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (COXPD47)?

Accepted Answer

very rare

autosomal recessive

mutation in the MRPS28 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618958

Question 3

Which enzymes are involved?

Accepted Answer

ecreased activities of mitochondrial respiratory complexes I, III, IV, and V

Disease	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47 (COXPD47)
Synonym	MRPS28
OMIM	618958 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
ExPASy	---
Gene locus	8q21.13
ICD	---
Summary	very rare autosomal recessive mutation in the MRPS28 gene
Laboratory findings	L-Lactic acid inc (serum) Alanine inc (plasma)
Symptoms	abnormalities (T) of the globus pallidus (MRI) Amino acids, plasma cataract cerebellar atrophy or hypoplasia cryptorchism developmental delay dysmorphism failure to thrive feeding difficulties, poor feeding growth retardation, poor growth hepatomegaly (large liver) hypotonia intellectual disability/intellectual developmental disorder intrauterine growth retardation lactic acidosis liver involvement or dysfunction microcephaly (<2 SD for age) onset, fetus onset, neonatal Organic acids, urine ptosis (drooping eyelid) skeletal changes, skeletal abnormalities speech development, delayed, abnormal