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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 3
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE) MTDPS3
251880
OMIM = Online Medalian Inheritance of Men
279934
2p13.1
rare
autosomal recessive
symptoms
ataxia
cataract
cholestasis
early death
edema
encephalopathy
failure to thrive
feeding difficulties, poor feeding
hepatomegaly (large liver)
hypoglycemia
hypotonia
lactic acidosis
liver failure
liver involvement or dysfunction
muscle weakness
myoclonus
myopathy, ragged red fibers
nystagmus
onset, infancy
onset, neonatal
peripheral neuropathy
splenomegaly (large spleen)
laboratory finding
Dicarboxylic acids0.000.00 increasedurineno data
Creatine kinase 40.00400.00increasedserum
Transaminases 10.0030.00increasedserum
L-Lactic acid 3.5029.30increasedblood
Literature
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