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METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
614857
OMIM = Online Mendelian Inheritance of Men
369955
ATP-binding cassette sub-family D member 4
---
11q24.3
E71.1
rare (3 cases)
autosomal recessive
mutation in the ABCD4 gene
Laboratory findingsBetaine normal/inc (urine)
    Homocysteine inc (serum)
    Homocysteine inc (urine)
    Methylmalonic acid inc (serum)
    Methylmalonic acid inc (urine)
Symptoms   anemia
   blindness, visual loss, visual impairment
   cerebral atrophy
   congenital heart defect
   developmental delay
   failure to thrive
   feeding difficulties, poor feeding
   hypotonia
   megaloblastic anemia
    cardiomyopathy
    cryptorchism
    lethargy, drowsiness, apathy
    liver involvement or dysfunction
    nystagmus
    onset, childhood
    onset, infancy
    onset, neonatal
    pulmonary hypertension
    retinopathy
    tachypnea, hyperpnea, dyspnea, hyperventilation