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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 COXPD34
617872
OMIM = Online Medalian Inheritance of Men
457223
17q25.1
very rare
autosomal recessive
mutation in the MRPS7 gene
symptoms
adrenal insufficiency
failure to thrive
hearing defect, deafness
hepatomegaly (large liver)
hypoglycemia
hypogonadism
lactic acidosis
learning disability
liver failure
onset, infancy
renal dysfunction, renal defects
vomiting
laboratory finding
L-Lactic acid mmol/lblood
D-Glucose mmol/lserum
Literature
Fretzayas A,et al.Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type IIPediatr Int553371-3732013