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Summary
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (MC3DN9)
616111
OMIM = Online Medalian Inheritance of Men
1460
11q12.3
very rare
autosomal recessive
mutation in the UQCC3 gene
symptoms
developmental delay
feeding difficulties, poor feeding
growth retardation, poor growth
hypoglycemia
hypotonia
lactic acidosis
onset, neonatal
laboratory finding
L-Lactic acid mmol/lserum
D-Glucose mmol/lserum
Literature
Gollasch B,et al.Late-onset Bartter syndrome type IIClin Kidney J105594-5992017