Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center

Mendoza-Ruvalcaba, Sandra del Carmen; Brambila-Tapia, Aniel Jessica Leticia; Juárez-Osuna, Jesús Alejandro; Silva-José, Thiago Donizete Da; Garcı́a-Ortiz, José Elı́as

doi:10.1590/1678-4685-gmb-2018-0347

Cited by 4 publications

(4 citation statements)

References 20 publications

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“…MPS IVA had the highest frequency (49.10%) among all MPS types, while MPS II was the least common type with a frequency of 6.7%. The estimated incidence per 100,000 live births for each MPS type was as follows: MPS I (0.19), MPS II (0.15), MPS IIIA (0.26), MPS IIIB (0.13), MPS IVA (1.10), MPS VI (0.17), and MPS VII (0.23) [ 30 ] ( Table 2 and Table 3 ).…”

Section: Updated Epidemiology Of Mps In the Seven Countriesmentioning

confidence: 99%

Epidemiology of Mucopolysaccharidoses Update

Çelik

Tomatsu

et al. 2021

Diagnostics

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Mucopolysaccharidoses (MPS) are a group of lysosomal storage disorders caused by a lysosomal enzyme deficiency or malfunction, which leads to the accumulation of glycosaminoglycans in tissues and organs. If not treated at an early stage, patients have various health problems, affecting their quality of life and life-span. Two therapeutic options for MPS are widely used in practice: enzyme replacement therapy and hematopoietic stem cell transplantation. However, early diagnosis of MPS is crucial, as treatment may be too late to reverse or ameliorate the disease progress. It has been noted that the prevalence of MPS and each subtype varies based on geographic regions and/or ethnic background. Each type of MPS is caused by a wide range of the mutational spectrum, mainly missense mutations. Some mutations were derived from the common founder effect. In the previous study, Khan et al. 2018 have reported the epidemiology of MPS from 22 countries and 16 regions. In this study, we aimed to update the prevalence of MPS across the world. We have collected and investigated 189 publications related to the prevalence of MPS via PubMed as of December 2020. In total, data from 33 countries and 23 regions were compiled and analyzed. Saudi Arabia provided the highest frequency of overall MPS because of regional or consanguineous marriages (or founder effect), followed by Portugal, Brazil, the Netherlands, and Australia. The newborn screening is an efficient and early diagnosis for MPS. MPS I has been approved for newborn screening in the United States. After the newborn screening of MPS I, the frequency of MPS I increased, compared with the past incidence rates. Overall, we conclude that the current identification methods are not enough to recognize all MPS patients, leading to an inaccurate incidence and status. Differences in ethnic background and/or founder effects impact on the frequency of MPS, which affects the prevalence of MPS. Two-tier newborn screening has accelerated early recognition of MPS I, providing an accurate incidence of patients.

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Section: Updated Epidemiology Of Mps In the Seven Countriesmentioning

confidence: 99%

Epidemiology of Mucopolysaccharidoses Update

Çelik

Tomatsu

et al. 2021

Diagnostics

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“…Мукополисахаридоз (МПС) -орфанное заболевание, относящееся к группе лизосомных болезней накопления. Известно [1][2][3][4][5][6]. Накопление гликозаминогликанов (ГАГ) вызывает задержку физического развития, умственную отста-На фоне бурно прогрессирующей кифотической деформации наблюдалось нарастание неврологического дефицита.…”

Section: обоснованиеunclassified

Aspects of Surgical Treatment of Spinal Pathology in the Patient with Gurler Syndrome

Очирова

Рябых

2021

Pediatr. farmakol.

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The clinical case of surgical treatment of combined spinal pathology in the child with Gurler syndrome is described in the article. Indications, major risk factors and aspects of surgical treatment of spinal pathology at this nosology are described in detail; all the approaches are analyzed according to the literature. Background. We would like to draw the attention of our colleagues to this problem with this clinical case. We want to emphasize the peculiarities of orthopedic manifestations in patients with mucopolysaccharidosis type IH (MPS IH). The most crucial is timely detection and surgical treatment. Clinical case description. This article describes the aspects of surgical treatment of spinal pathology in the patient with MPS IH: progressive kyphotic deformation, stenosis and craniovertebral junction instability, significant neurological deficit, internal organs functional disorders. Conclusion. Patients with MPS are characterized by multilevel orthopedic pathology which requires continuous follow-up throughout the life by single multidisciplinary team of specialists.

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“…Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disorder caused by the deficiency of alpha-L-iduronidase (IDUA, EC 3.2.1.76) [ 1 ]. This lysosomal storage disease has an estimated worldwide prevalence of 1 in 100,000 live newborns [ 2 ], while an overall prevalence of 0.19 is estimated in Mexico [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

“…Worldwide, the severe form of MPS I is more frequent, accounting for ~60% of patients, when compared with the intermediate (23%) or attenuated (13%) forms [ 5 ]. In Mexico, it is estimated that 50–80% of the MPS I cases are consistent with the Hurler phenotype [ 3 ]. The high prevalence of Hurler syndrome can be explained by the allele frequency (AF) of the nonsense variants c.208C>T (p.Q70X; AF: 0.167) and c.1205G>A (p.W402X; AF: 0.30) [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

Mucopolysaccharidosis Type I in Mexico: Case-Based Review

et al. 2023

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Introduction: Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease present in 1:100,000 newborns. Variants in the IDUA (alpha-L-iduronidase) gene decrease the enzyme activity for glycosaminoglycans metabolism. MPS I patients exhibit clinical manifestations that fall on the Hurler, Hurler–Scheie, and Scheie syndrome spectrum. Case presentation: We present a male Mexican patient with respiratory exacerbations requiring recurrent hospitalizations. He showed macrocephaly, coarse facies, hepatomegaly, umbilical hernia, and dorsal kyphosis. The sequencing of the IDUA gene revealed the following genotype: c.46_57del12/c.1205G>A. He received combined therapy with hematopoietic stem cell transplantation and enzyme replacement. Mexican case reports were analyzed to estimate the prevalence of the associated genetic variants. Conclusion: Despite the challenges of managing this rare disease in Mexico, our patient benefited from the combined therapy. The discrete clinical manifestations and prompt evaluation by a geneticist were crucial in establishing a diagnosis, enabling an early intervention by a multidisciplinary team. The combination of ERT before and after HSCT provided health benefits to our patient.

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Biochemical diagnosis of mucopolysaccharidosis in a Mexican reference center

Cited by 4 publications

References 20 publications

Epidemiology of Mucopolysaccharidoses Update

Epidemiology of Mucopolysaccharidoses Update

Aspects of Surgical Treatment of Spinal Pathology in the Patient with Gurler Syndrome

Mucopolysaccharidosis Type I in Mexico: Case-Based Review

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