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Summary
MUCOPOLYSACCHARIDOSIS III SAN FILIPPO A SYNDROME
MPS3A
252900
OMIM = Online Medalian Inheritance of Men
79269
17q25.3
rare (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
diarrhea
dysmorphism
dysostosis multiplex
hearing defect, deafness
hepatomegaly (large liver)
hirsutism
hypertrichosis
infections (severe or recurrent)
inguinal hernia
joint stiffness
lethargy, drowsiness, malaise or sleep disorder
mental retardation
onset, adolescent
onset, childhood
progressive neurologic defect
seizures
skin defects
splenomegaly (large spleen)
swallowing difficulties
X-ray, abnormalities
laboratory finding
Heparan sulfate0.000.00 increasedurineno data
Heparan-N-sulfamidase 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
Kakinoki Het al.Mutations and DNA diagnoses of classical citrullinemiaHum Mutat93250-2591997
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
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