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Summary
MYOCLONIC EPILEPSY AND RAGGED RED FIBER DISEASE (MERRF)
MERRF SYNDROME FUKUHARA SYNDROME
545000
OMIM = Online Medalian Inheritance of Men
551
mitochondrial
rare
80-90 % heteroplasmic for G->A point mutation of the tRNA gene * diagnosis: mitochondrial DNA analysis in leukocytes muscle biopsy with histochemistry, electron microscopy and immediate isolation of mitochondria
symptoms
ataxia
epilepsy
headache (severe, recurrent or occipital, migraine)
hearing defect, deafness
lactic acidosis
mental retardation
metabolic acidosis
muscle weakness
myoclonus
myopathy
onset, childhood
optic atrophy
respiratory insufficiency
seizures
laboratory finding
Lactate2.006.000.901.80mmol/lblood
Lactate/Pyruvate ratio20.0040.0011.0018.00no unitblood
EEG abnormalities -
PET (positron emission tomography), abnormal -
VER, abnormal -
Electron microscopy -
Literature
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Wanders RJAMooyer PD-2-Hydroxyglutaric acidemia: identification of a new enzyme, D-2-hydroxyglutarate dehydrogenase, localized in mitochondriaJ Inherit Metab Dis180196-1961995
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Hagberg BAet al.Carbohydrate-deficient glycoprotein syndrome: peculiar group of new disordersPediatr Neurol94255-2621993
Willems PJGerver WJM, Berger R, Fernandes JThe natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patientsEur J Pediatr1490268-2711990