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Summary
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO C SYNDROME
MUCOPOLYSACCHARIDOSIS IIIC
252930
OMIM = Online Medalian Inheritance of Men
581
8p11.2-p11.3
1:70000 (all types)
autosomal recessive
Types A, B, C, D - type A is the most severe form
symptoms
behavior, hyperactive, restless
contractures, joints
dysostosis multiplex
hearing defect, deafness
hepatomegaly (large liver)
inguinal hernia
joint stiffness
mental retardation
onset, adolescent
onset, childhood
progressive neurologic defect
skin, pigmentation
splenomegaly (large spleen)
X-ray, abnormalities
laboratory finding
Heparan sulfate0.000.00 increasedurineno data
Acetyl-CoA: alpha-glucosaminide N-acetyltransferase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
van den Berghe GVincent MFDisorders of purine and pyrimidine metabolismin Fernandes J, Saudubray JM, van den Berghe (eds): Inborn metabolic diseases, diagnosis and treatment Berlin, Springer Verlag00289-3021996
Osafune Ket al.An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemiaIntern Med387590-5961999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994