The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
Annals of Laboratory Medicine
;
: 75-79, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-119336
ABSTRACT
Mucopolysaccharidosis (MPS) III has 4 enzymatically distinct forms (A, B, C, and D), and MPS IIIC, also known as Sanfilippo C syndrome, is an autosomal recessive lysosomal storage disease caused by a deficiency of heparan acetyl-CoAalpha-glucosaminide N-acetyltransferase (HGSNAT). Here, we report a case of MPS IIIC that was confirmed by molecular genetic analysis. The patient was a 2-yr-old girl presenting with skeletal deformity, hepatomegaly, and delayed motor development. Urinary excretion of glycosaminoglycan (GAG) was markedly elevated (984.4 mg GAG/g creatinine) compared with the age-specific reference range (A (IVS2+1G>A) and c.1150C>T (p.Arg384*). To the best of our knowledge, this is the first case of MPS IIIC to be confirmed by clinical, biochemical, and molecular genetic findings in Korea.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Acetyltransferases
/
Séquence nucléotidique
/
Chromatographie sur couche mince
/
Mucopolysaccharidose de type III
/
Analyse de séquence d'ADN
/
Asiatiques
/
République de Corée
/
Glycosaminoglycanes
/
Héparitine sulfate
/
Leucocytes
Limites du sujet:
Enfant d'âge préscolaire
/
Femelle
/
Humains
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Annals of Laboratory Medicine
Année:
2013
Type:
Article
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