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Summary
MUCOPOLYSACCHARIDOSIS III. SAN FILIPPO A SYNDROME
MUCOPOLYSACCHARIDOSIS IIIA
252900
OMIM = Online Medalian Inheritance of Men
581
17q25.3
1:70000 (all types)
autosomal recessive
Types A, B, C, D - type A is the most severe form
symptoms
behavior, hyperactive, restless
cardiomyopathy
coarse facial features
contractures, joints
dysmorphism
dysostosis multiplex
hepatomegaly (large liver)
hirsutism
hypertrichosis
inguinal hernia
joint stiffness
mental retardation
onset, adolescent
onset, childhood
progressive neurologic defect
skin defects
splenomegaly (large spleen)
X-ray, abnormalities
laboratory finding
Heparan sulfate0.000.00 increasedurineno data
Heparan-N-sulfamidase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Literature
Kakinoki Het al.Mutations and DNA diagnoses of classical citrullinemiaHum Mutat93250-2591997
Osafune Ket al.An adult-onset case of argininosuccinate synthetase deficiency presenting with atypical citrullinemiaIntern Med387590-5961999
Steen Cet al.Cobalamin E (cblE) disease a severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionineJ Inherit Metab Dis200705-7061997
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Saheki Tet al.Increased urinary excretion of argininosuccinate in type II citrullinemiaClin Chim Acta1700297-3041987