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Summary
MUCOPOLYSACCHARIDOSIS III SAN FILIPPO B SYNDROME
MPS3B
252920
OMIM = Online Medalian Inheritance of Men
79270
17q21.2
rare (1:70000, all types)
autosomal recessive
Types A, B, C, D
type A is the most severe form
symptoms
behavior, hyperactive, restless
cardiomegaly
coarse facial features
contractures, joints
diarrhea
dysostosis multiplex
hair, abnormal (thin, brittle, fine)
hearing defect, deafness
hepatomegaly (large liver)
hirsutism
hypertrichosis
inguinal hernia
joint stiffness
liver involvement or dysfunction
mental retardation
onset, adolescent
onset, childhood
progressive neurologic defect
seizures
splenomegaly (large spleen)
X-ray, abnormalities
laboratory finding
Heparan sulfate0.000.00 increasedurineno data
alpha-N-Acetylglucosaminidase decreased activityfibroblasts
Mucopolysaccharides0.000.00 increasedurineno data
Glycosaminoglycans, total increasedurine
Literature
Debnath S,Addya SIn-silico modelling of SERAC1: Protein involved in a developmental neural disorder MEGDEL syndrome characterized by 3-methyl glutaconic aciduria type IV with sensory-neural deafness, encephalopathy and Leigh-like syndromeInt J Dev Neurosci4701-22015
Rodriguez-Garc-ía ME,et al.First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol traffickingNeurogenetics17151-562015
Kawata Aet al.Adult-onset type II citrullinemia: clinical pictures before and after liver transplantationIntern Med366408-4121997
Wortmann SB,et al.MEGDEL SyndromeGeneReviews-« Internet002014
Lumish HS,et al.The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 MutationsJIMD Rep16075-792014
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