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3-METHYLGLUTACONIC ACIDURIA (TYPE IV)

3-METHYLGLUTACONIC ACIDURIA (TYPE IV)
MGA4, 3-@METHYLGLUTACONIC ACIDURIA, TYPE IV
250951
OMIM = Online Mendelian Inheritance of Men
67048
unknown, not mapped
E71.1
very rare (<1:200000)
autosomal recessive
clinically heterogenous group
Laboratory findingsMethionine normal/inc (plasma)
   Citric acid normal/inc (urine)
    3-Methylglutaconic acid inc (urine)
    3-Methylglutaric acid inc (urine)
    Ammonia normal/inc (blood)
    Creatine kinase normal/inc (plasma)
    D-Glucose normal/dec (plasma)
    L-Carnitine normal/dec (plasma)
    L-Lactic acid normal/inc (urine)
    Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms   anemia
   basal ganglia, changes, lesions, calcifications (MRI, CT)
   cardiomyopathy
   encephalopathy
   failure to thrive
   hypoglycemia
   intellectual disability/intellectual developmental disorder
   liver involvement or dysfunction
   psychomotor retardation
    cardiac involvement, cardiac defects
    cataract
    early death
    hearing defect, deafness
    hyperammonemia
    hypertonia, spasticity
    hypotonia
    inguinal hernia
    mental retardation
    microcephaly (<2 SD for age)
    motor retardation
    MRI, brain, abnormalities [-]
    no clinical symptoms (probably)
    onset, neonatal
    optic atrophy
    Organic acids, urine
    respiratory distress
    seizures