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MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (MMDS1)

MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1 (MMDS1)
605711
OMIM = Online Mendelian Inheritance of Men
401869
NFU1 iron-sulfur cluster scaffold homolog, mitochondrial
2p13.3
E88.8
very rare
autosomal recessive
mutation in the NFU1 gene
Laboratory findings    2-Hydroxybutyric acid inc (urine)
    Glycine inc (plasma)
    L-Isoleucine inc (plasma)
    L-Lactic acid inc (serum)
    Lactate/Pyruvate ratio inc (serum)
    Leucine inc (plasma)
    Valine inc (plasma)
Symptoms    early death
    encephalopathy
    failure to thrive
    feeding difficulties, poor feeding
    lactic acidosis
    lethargy, drowsiness, apathy
    leukoencephalopathy
    MRI, brain, abnormalities [-]
    onset, infancy
    onset, neonatal
    psychomotor retardation
    pulmonary hypertension
    respiratory insufficiency
    white matter changes, abnormalities