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Summary
MITOCHONDRIAL COMPLEX III DEFICIENCY
Mitochondrial chaperone BCS1
124000
OMIM = Online Medalian Inheritance of Men
1460
2q35
rare
autosomal recessive
symptoms
Amino acids, urine
cataract
cholestasis
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hearing defect, deafness
hypoglycemia
hypotonia
lactic acidosis
liver involvement (acute, chronic, hepatitis)
metabolic acidosis
muscle weakness
psychomotor retardation
renal dysfunction
laboratory finding
Glucose
Lactate increasedblood
Literature