Diagnosis of Hunter Syndrome (Mucopolysaccharidosis Type II) in a Resource­ Limited Setting: A Case Report from Zambia

نویسندگان

چکیده

Abstract
 Hunter syndrome is one of the Mucopolysaccharidosis (MPS), type II. It a rare genetic disorder due to deficiency in enzyme Iduronate 2-sulphatase. This leads accumulation glycosaminoglycans (GAGs) dermatan sulphate and heparan sulphate. The GAGs accumulate both intracellularly extracellularly, leading abnormalities different organ systems body. definitive diagnosis requires biochemical methods which can be challenge resource-limited settings, Zambia included. Presented here case Syndrome 12-year-old male child highlight clinical acumen as main ingredient making distinguishing types.

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Atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report

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ژورنال

عنوان ژورنال: Medical journal of Zambia

سال: 2022

ISSN: ['0047-651X']

DOI: https://doi.org/10.55320/mjz.48.3.183