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Summary
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO B SYNDROME
MUCOPOLYSACCHARIDOSIS IIIB
252920
OMIM = Online Medalian Inheritance of Men
79270
17q21.2
1:70000 (all types)
autosomal recessive
Types A, B, C, D - type A is the most severe form
symptoms
behavior, hyperactive, restless
coarse facial features
contractures, joints
dysostosis multiplex
hair, abnormal (thin, brittle)
hearing defect, deafness
hepatomegaly (large liver)
hypertrichosis
inguinal hernia
joint stiffness
mental retardation
onset, adolescent
onset, childhood
progressive neurologic defect
splenomegaly (large spleen)
X-ray, abnormalities
laboratory finding
Heparan sulfate0.000.00 increasedurineno data
alpha-N-Acetylglucosaminidase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Kawata Aet al.Adult-onset type II citrullinemia: clinical pictures before and after liver transplantationIntern Med366408-4121997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Yazaki Met al.Complete neurological recovery of an adult patient with type II citrullinemia after living related partial liver transplantationTransplantation62111679-16841996
Tsuboi Yet al.Liver transplantation in type II citrullinemia. Rinsho Shinkeigaku39101049-10531999
Saheki Tet al.Increased urinary excretion of argininosuccinate in type II citrullinemiaClin Chim Acta1700297-3041987