Abstract
Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disorder caused by deleterious mutations in the α-L-iduronidase (IDUA) gene. Until now, MPS I in Vietnamese has been poorly addressed. Five MPS I patients were studied with direct DNA sequencing using Illumina technology confirming pathogenic variants in the IDUA gene. Clinical characteristics, additional laboratory results, and family history were collected. All patients have presented with the classical characteristic of MPS I, and α-L-iduronidase activity was low with the accumulation of glycosaminoglycans. Three variants in the IDUA gene (c.1190-10C>A (Intronic), c.1046A>G (p.Asp349Gly), c.1862G>C (p.Arg621Pro) were identified. The c.1190-10C>A variant represents six of the ten disease alleles, indicating a founder effect for MPS I in the Vietnamese population. Using biochemical and genetic analyses, the precise incidence of MPS I in this population should accelerate early diagnosis, newborn screening, prognosis, and optimal treatment.
Highlights
The mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs)
MPS I is caused by a deficiency of the α-L-iduronidase (IDUA), which leads to an accumulation of two glycosaminoglycans (GAGs), heparan sulfate (HS) and dermatan sulfate (DS), in almost all tissues
A total of five patients were diagnosed with Hurler syndrome
Summary
The mucopolysaccharidoses (MPS) are a group of inherited metabolic disorders caused by the deficiency of lysosomal enzymes that degrade glycosaminoglycans (GAGs). MPS I is caused by a deficiency of the α-L-iduronidase (IDUA), which leads to an accumulation of two glycosaminoglycans (GAGs), heparan sulfate (HS) and dermatan sulfate (DS), in almost all tissues. MPS I is a progressive multisystemic disorder with a wide range of clinical manifestations. These include coarse facial features, hepatosplenomegaly, dysostosis multiplex, severe arthropathy, visual impairment, hearing loss, restrictive lung disease, upper airway obstruction, valvular heart disease, communicating hydrocephalus, mental retardation, and spinal cord compression [4]. I in the north of Vietnam was 9.9% in a total of 71 MPS patients identified [1]. There has been no detailed report describing MPS I patients in the North of Vietnam. We describe the clinical characteristics and molecular genetics of 5 patients with MPS I
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