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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31 COXPD31
317228
OMIM = Online Medalian Inheritance of Men
478049
13q12.12
rare
autosomal recessive
mutation in the MIPEP gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
cardiomyopathy, noncompaction
cataract
developmental delay
dysmorphism
early death
failure to thrive
feeding difficulties, poor feeding
hypertonia, spasticity
hypotonia
lactic acidosis
microcephaly (<2 SD for age)
onset, infancy
laboratory finding
Lactic acid3.00 mmol/lplasma
Alanine increasedserum
Literature
Ediz SS,et al.MRI and MRS findings in fucosidosis a rare lysosomal storage diseaseBrain Dev384435-4382016