Visit Metagene.de!
Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28 COXPD28
616794
OMIM = Online Medalian Inheritance of Men
466784
3p14.1
rare
autosomal recessive
mutation in the SLC25A26 gene
symptoms
developmental delay
heart failure, cardiac failure
hypotonia
lactic acidosis
muscle weakness
onset, infancy
pulmonary hypertension
respiratory insufficiency
laboratory finding
Lactic acid3.00 mmol/lplasma
Pyruvic acid normal-increasedserum
Glycine normal-increasedplasma
Literature
Trinh CH,et al.Structures of alternatively spliced isoforms of human ketohexokinaseActa Crystallogr D Biol Crystallogr653201-2112009