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Summary
MUCOPOLYSACCHARIDOSIS III SAN FILIPPO C SYNDROME
MPS3C
252930
OMIM = Online Medalian Inheritance of Men
79271
8p11.2-p11.1
rare (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
diarrhea
dysostosis multiplex
dysphagia
hearing defect, deafness
heart involvement
hepatomegaly (large liver)
hernia
hirsutism
inguinal hernia
joint stiffness
liver involvement or dysfunction
mental retardation
motor retardation
onset, adolescent
onset, childhood
progressive neurologic defect
retinitis pigmentosa
seizures
skin, pigmentation
splenomegaly (large spleen)
swallowing difficulties
X-ray, abnormalities
laboratory finding
Heparan sulfate0.000.00 increasedurineno data
Acetyl-CoA: alpha-glucosaminide N-acetyltransferase 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 syndrome.Int J Dev Neurosci4701-22015
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
Rodr+-íguez-Garc+-ía ME,et al.First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol traffickingNeurogenetics002015
Wortmann SB,et al.MEGDEL Syndrome.Source GeneReviews--½ InternetSource GeneReviews--½ Internet002014
Lumish HS,et al.The Expanding MEGDEL Phenotype: Optic Nerve Atrophy, Microcephaly, and Myoclonic Epilepsy in a Child with SERAC1 MutationsJIMD Rep16075-792014
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