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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16 COXPD16
615395
OMIM = Online Medalian Inheritance of Men
352563
2q36.1
rare
autosomal recessive
mutation in the MRPL44 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
lactic acidosis
liver involvement or dysfunction
onset, childhood
onset, infancy
laboratory finding
Lactic acid3.00 mmol/lplasma
Transaminases increasedserum
Literature
Akagi R,et al.delta-Aminolevulinate dehydratase (ALAD) porphyria: the first case in North America with two novel ALAD mutationsMol Genet Metab874329-3362006
Ge J,et al.Downregulation of delta-aminolevulinate dehydratase is associated with poor prognosis in patients with breast cancerCancer Sci1084604-6112017
Dias C,et al.Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disordersOrphanet J Rare Dis90942014