The First Korean Case of Mucopolysaccharidosis IIIC (Sanfilippo Syndrome Type C) Confirmed by Biochemical and Molecular Investigation
Annals of Laboratory Medicine
;
: 75-79, 2013.
Artículo
en Inglés
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Acetiltransferasas
/
Secuencia de Bases
/
Cromatografía en Capa Delgada
/
Mucopolisacaridosis III
/
Análisis de Secuencia de ADN
/
Pueblo Asiatico
/
República de Corea
/
Glicosaminoglicanos
/
Heparitina Sulfato
/
Leucocitos
Límite:
Child, preschool
/
Femenino
/
Humanos
País/Región como asunto:
Asia
Idioma:
Inglés
Revista:
Annals of Laboratory Medicine
Año:
2013
Tipo del documento:
Artículo
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