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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 COXPD30
616974
OMIM = Online Medalian Inheritance of Men
478042
3q12.3
rare
autosomal recessive
mutation in the TRMT10C gene
symptoms
early death
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
heart involvement
hypotonia
lactic acidosis
liver involvement or dysfunction
onset, neonatal
respiratory insufficiency
laboratory finding
Lactic acid3.00 mmol/lplasma
Lactic acid mmol/lcerebrospinal fluid
Alanine increasedplasma
Transaminases increasedserum
Literature
Panmontha W,et al.Novel mutations in the FUCA1 gene that cause fucosidosisGenet Mol Res1532016
Wolf H,et al.A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human diseaseDis Model Mech991015-10282016