Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.
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ABSTRACT:
SUBMITTER: Kim JH
PROVIDER: S-EPMC5177708 | biostudies-literature | 2016 Nov
REPOSITORIES: biostudies-literature
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Long-term clinical course of a patient with mucopolysaccharidosis type IIIB.
Kim Ja Hye JH Chi Yang Hyun YH Kim Gu-Hwan GH Yoo Han-Wook HW Lee Jun Hwa JH
Korean journal of pediatrics 20161130 Suppl 1
Mucopolysaccharidosis type III (MPS III) is a rare genetic disorder caused by lysosomal storage of heparan sulfate. MPS IIIB results from a deficiency in the enzyme alpha-<i>N</i>-acetyl-D-glucosaminidase (NAGLU). Affected patients begin showing behavioral changes, progressive profound mental retardation, and severe disability from the age of 2 to 6 years. We report a patient with MPS IIIB with a long-term follow-up duration. He showed normal development until 3 years. Subsequently, he presented ...[more]
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