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DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLDD)

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY (DLDD)
DLD DEFICIENCY; E3 DEFICIENCY; MSUD TYPE III
246900
OMIM = Online Mendelian Inheritance of Men
2394
Dihydrolipoyl dehydrogenase, mitochondrial
1.8.1.4
7q31.1
E74.4
very rare (<1:1000000)
autosomal recessive
mutation in the DLD gene
antiepileptic drugs (valproate and topiramate) resulted in a profile that mimicked PDH (E3) [Mampilly GT et al. 2014]
Laboratory findings2-Oxoadipic acid inc (urine)
Citrulline inc (plasma)
   2-Oxoglutaric acid inc (urine)
   L-Lactic acid inc (urine)
    Ammonia inc (blood)
    D-Glucose normal/dec (blood)
    L-Isoleucine inc (plasma)
    L-Lactic acid inc (blood)
    Lactate/Pyruvate ratio inc (blood)
    Leucine inc (plasma)
    Pyruvic acid inc (blood)
    Sedoheptulose-7-phosphate inc (urine)
    Valine inc (plasma)
Symptomshyperammonemia
hypoglycemia
lactic acidosis
    ataxia
    basal ganglia, changes, lesions, calcifications (MRI, CT)
    cardiomyopathy
    cardiomyopathy, hypertrophic
    cortical or cerebral atrophy
    developmental delay
    dystonia
    early death
    encephalopathy
    failure to thrive
    feeding difficulties, poor feeding
    growth retardation, poor growth
    hepatomegaly (large liver)
    intracerebral, cortical or paraventricular cysts
    Leigh syndrome
    liver failure
    liver involvement or dysfunction
    mental retardation
    metabolic acidosis
    microcephaly (<2 SD for age)
    motor retardation
    muscle weakness
    onset, infancy
    onset, neonatal
    Organic acids, urine
    seizures
    stridor
    tachypnea, hyperpnea, dyspnea, hyperventilation
    vomiting