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MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2; MC5DN2
ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL, NEONATAL, DUE TO ATP SYNTHASE DEFICIENCY; TMEM70
614052
OMIM = Online Mendelian Inheritance of Men
1194
Transmembrane protein 70, mitochondrial
8q21.11
rare
autosomal recessive
mutation in the TMEM70 gene
Laboratory findings    3-Methylglutaconic acid inc (urine)
    Alanine inc (plasma)
    Ammonia inc (blood)
    Creatine kinase inc (serum)
    Ketone bodies (urine) normal/inc (urine)
    L-Lactic acid inc (blood)
Symptoms    apnea
    ataxia
    basal ganglia, changes, lesions, calcifications (MRI, CT)
    cardiac arrhythmia, dysrhythmia
    cardiomyopathy
    cardiomyopathy, hypertrophic
    cataract
    cerebellar atrophy or hypoplasia
    cryptorchism
    developmental delay
    dysmorphism
    early death
    encephalopathy
    failure to thrive
    heart failure, cardiac failure
    hepatomegaly (large liver)
    hyperammonemia
    hypospadia
    hypotonia
    inguinal hernia
    intrauterine growth retardation
    lactic acidosis
    leukoencephalopathy
    liver involvement or dysfunction
    metabolic acidosis
    microcephaly (<2 SD for age)
    MRI, brain, abnormalities [-]
    oligohydramnion (maternal)
    onset, childhood
    onset, fetus
    onset, infancy
    onset, neonatal
    psychomotor retardation
    pulmonary hypertension
    respiratory insufficiency
    seizures
    small for gestational age (SGA), intrauterine growth retardation (IUGR)
    tubulopathy
    umbilical hernia
    Wolf-Parkinson-White syndrome