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Summary
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO D SYNDROME
MUCOPOLYSACCHARIDOSIS IIID
252940
OMIM = Online Medalian Inheritance of Men
581
12q14.3
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
hearing defect, deafness
heart failure
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
N-Acetylglucosamine-6-sulfate sulfatase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Pierpont MEet al.Familial carnitine transporter defect: A treatable cause of cardomyopathy in childrenAm Heart J1390S96-1062000
Witsch-Baumgartner Met al.Mutational spectrum in the delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndromeAm J Hum Genet660402-4122000
Sinasac DSet al.Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologueGenomics622289-2921999
Nezu Jet al.Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporterNat Genet21191-941999
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994