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A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB

, : A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB. Annals of Laboratory Medicine 33(3): 221-224

Mucopolysaccharidosis (MPS) IIIB is a lysosomal storage disorder (LSD) caused by abnormalities of the enzyme α-N-acetylglucosaminidase (NAGLU) that is required for degradation of heparan sulfate. The patient in this study was a 4-yr-old boy. He presented with normal height and weight, pectus carinatum, and multiple persistent Mongolian spots on his back. He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays. The cetylpyridinium chloride precipitation test revealed excessive mucopolysacchariduria (657.2 mg glycosaminoglycan/g creatinine; reference range, <175 mg glycosaminoglycan/g creatinine). Thin layer chromatography showed urinary heparan sulfate excretion. NAGLU enzyme activity was significantly decreased in leukocytes (not detected; reference range, 0.9-1.51 nmol/hr/mg protein) as well as in plasma (0.14 nmol/hr/mg protein; reference range, 22.3-60.9 nmol/hr/mg protein). PCR and direct sequencing analysis of the NAGLU gene showed that the patient was a compound heterozygote for 2 mutations: c.200T>C (p.L67P) and c.1444C>T (p.R482W). The c.200T>C mutation was a novel finding. This is the first report of a Korean patient with MPS IIIB who was confirmed by molecular genetic analyses and biochemical investigation.


PMID: 23667853

DOI: 10.3343/alm.2013.33.3.221

Other references

Kim, J.; Suk, J.; Nam, D.; Ha, K.; Choung, Y., 2013: The study of electron equivalent fluxes about decomposition of sulfamethazine and sulfathiazole using oxygen-based membrane biofilm reactor. The subject of this research was electron equivalent fluxes about the decomposition of pharmaceuticals (sulfamethazine and sulfathiazole) using an oxygen-based membrane biofilm reactor (MBfR). The influent concentrations in pharmaceuticals feed-me...

Gonzalez-Toledo, E.; Santos Andrade, C.; D.C.sta Leite, C.; Del Carpio-O'Donovan, R.; Fayed, N.; Morales, H.; Peterson, R.; Palacios, E.; Previgliano, C.H.; Rocha, A.J.; Romero, J.M.; Rugilo, C.; Staut, C.C.V.; Tamer, I.; Tavares Lucato, L.; Nader, M., 2010: An Atlas of Infectious and Parasitic Diseases of the Central Nervous System. A Cooperative Study of SILAN (Sociedad Iberolatinoamericana de Neurorradiologia). Infectious diseases of the central nervous system vary in frequency in different locations in America and Europe. What is common in Brazil can be a sporadic presentation in Europe. Cooperative work gathering experiences from neuroradiologists work...

Uniyal, P.L.; Ram, H.Y.Mohan, 2001: Studies on the morphology and in vitro seed germination in Willisia selaginoides (Bedd.) Warm. ex Willis (Podostemaceae). Willisia selaginoides (Bedd.) Warm. ex Willis is a unique, rare, endangered and endemic haptophyte that grows in a rapidly flowing stream in Campanywadi, Idukki disrict, Kerala, India. The plant body consists of tufts of 7-10 cm long and erect sho...

Saigal, Saroj, 1995: Long-term outcome of very low-birth-weight infants: Kindergarten and beyond. This paper is a review article which addresses the global outcome of very low-birth-weight children from preschool years to mid-childhood. Several dimensions of their outcome are reviewed, such as health status, growth, emotional and behavioral st...

Stern, J.B., 1932: Neue Silberimpragnationsversuche zur Darstellung der Mikro- und Oligodendroglia. The author recommends immersing celloidin spec-imens in Ag ammonia followed by formol. The Ag impregnation of the micro- and oligodendroglia is simple and complete, the advantages of celloidin imbedding are preserved and old slides (7 yrs.) may be...

McISAAC.W.M.; PAGE.I.H., 1958: New metabolites of serotonin in carcinoid urine. Science 128(3323): 537-537

Garcia, A.G., 1963: Hepatic Lesions In Inclusion Disease, Presenting The Picture Of Viral Hepatitis. Presentation Of A Case. Hospital 64: 363-374

Kishkina, V.Ia.; Semenov, A.D.; Makhacheva, Z.A.; Butiagin, S.V., 1989: Fluorescent angiographic and rheographic evaluation of the ocular hemodynamics in patients with proliferative diabetic retinopathy after closed vitrectomy. Rheo-ophthalmography has been employed in examinations of the hemodynamics in 42 patients with proliferative diabetic retinopathy, aged 21 to 78; in 16 of these patients with sufficiently transparent media the fundus oculi has been examined by flu...

Grundy, R.; Larcher, V.; Gosden, R.G.; Hewitt, M.; Leiper, A.; Spoudeas, H.A.; Walker, D.; Wallace, W.H., 2001: Fertility preservation for children treated for cancer (2): ethics of consent for gamete storage and experimentation. Archives of Disease in Childhood 84(4): 360-362

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