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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) MTDPS6
NAVAJO NEUROHEPATOPATHY NNH
256810
OMIM = Online Medalian Inheritance of Men
255229
2p23.3
rare
autosomal recessive
mutation in the MPV17 gene
symptoms
ataxia
bone fractures
cholestasis
cirrhosis or fibrosis of liver
developmental delay
diarrhea
dystonia
failure to thrive
hepatomegaly (large liver)
hypoglycemia
hyporeflexia
hypotonia
infections (severe or recurrent)
insensitivity to pain
lactic acidosis
liver failure
muscle weakness
nystagmus
onset, infancy
peripheral neuropathy
short stature
vomiting
laboratory finding
L-Lactic acid increasedplasma
D-Glucose decreasedplasma
Literature
Morelle W,et al.Galactose Supplementation in Patients With TMEM165-CDG Rescues the Glycosylation DefectsJ Clin Endocrinol Metab10241375-13862017