Visit Metagene.de!
Summary
METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE
614857
OMIM = Online Medalian Inheritance of Men
11q24
Mutations in ABCD4, failure to release vitamin B(12) from lysosomes
symptoms
anemia
congenital heart defect
feeding difficulties, poor feeding
hypotonia
lethargy, drowsiness, malaise or sleep disorder
laboratory finding
Methylmalonic acid0.000.00 increasedurineno data
Homocysteine increasedserum
Literature
Wraith EJet al.Laronidase treatment of mucopolysaccharidosis IBioDrugs1911-72005
Wraith EJet al.Laronidase treatment of mucopolysaccharidosis IBioDrugs1911-72005