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Summary
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
614857
OMIM = Online Medalian Inheritance of Men
369955
11q24.3
rare (3 cases)
autosomal recessive
mutation in the ABCD4 gene
symptoms
anemia
cerebral atrophy
congenital heart defect
cryptorchism
feeding difficulties, poor feeding
hyperpigmentation
hypotonia
lethargy, drowsiness, malaise or sleep disorder
onset, neonatal
pulmonary hypertension
tachypnea, hyperpnea, dyspnea, respiratory distress
laboratory finding
Methylmalonic acid0.000.00 increasedurineno data
Homocysteine increasedserum
Homocysteine increasedurine
Methylmalonic acid increasedserum
Literature
Wraith EJet al.Laronidase treatment of mucopolysaccharidosis IBioDrugs1911-72005
Loupatty FJ,et al.Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegenerationAm J Hum Genet801195-1592007
Wraith EJet al.Laronidase treatment of mucopolysaccharidosis IBioDrugs1911-72005
Sadat MA,et al.Glycosylation, hypogammaglobulinemia, and resistance to viral infectionsN Engl J Med370171615-16252014
Alazami AM,et al.Congenital disorder of glycosylation IIa: the trouble with diagnosing a dysmorphic inborn error of metabolismAm J Med Genet A1581245-2562012