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EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (EIEE51)

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51 (EIEE51)
617339
OMIM = Online Mendelian Inheritance of Men
Malate dehydrogenase, mitochondrial
7q11.23
rare
autosomal recessive
utation in the MDH2 gene
Laboratory findings   Citric acid inc (urine)
    Fumaric acid inc (urine)
    L-Lactic acid inc (blood)
    L-Lactic acid inc (cerebrospinal fluid)
    Malic acid inc (urine)
Symptoms    abnormal movement
    cerebellar atrophy or hypoplasia
    constipation
    dystonia
    early death
    encephalopathy
    epilepsy
    failure to thrive
    feeding difficulties, poor feeding
    hyporeflexia
    hypotonia
    inverted nipples
    lactic acidosis
    muscle atrophy
    muscle weakness
    onset, infancy
    onset, neonatal
    pyramidal signs
    retinitis pigmentosa
    seizures
    speech development, delayed, abnormal
    strabismus