Prevalence of lysosomal storage diseases in Portugal

Pinto, Rui; Caseiro, Carla; Lemos, Manuela Nascimento de; Lopes, Lurdes; Fontes, A; Ribeiro, Helena; Pinto, Eugénia; Silva, Elisabete; Rocha, Sónia; Marcão, Ana; Ribeiro, Isaura; Lacerda, Lúcia; Ribeiro, Maria Gil; Amaral, Olga; Sá-Miranda, Clara

doi:10.1038/sj.ejhg.5201044

Cited by 286 publications

(220 citation statements)

References 9 publications

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“…Nonetheless, the prevalence of MPS IV A was found to be higher as compared to IV B which is in concordance with other reported studies (Pinto et al 2004;Meikle et al 1999;Poupetova et al 2010). Occurrence of MPS III-A and III-B in this study is lower than that reported from Australia and Portugal (Pinto et al 2004;Meikle et al 1999) (Fig. 2).…”

Section: Discussionsupporting

confidence: 92%

“…This study demonstrates glycolipid storage disorders as one of the most common LSDs in India, similar to that observed in Portugal, Australia, and Czech Republic (Pinto et al 2004;Meikle et al 1999;Poupetova et al 2010) with higher frequency of Gaucher disease (Fig. 2).…”

Section: Discussionsupporting

confidence: 87%

“…Higher incidence of Tay-Sachs in our study could be due to the presence of founder mutation in HEXA gene in the SC community of Gujarat . Mucopolysaccharidosis was the second most common LSD, which is in accordance with several other groups (Pinto et al 2004;Meikle et al 1999;Poupetova et al 2010;Verma et al 2012). Among these groups, MPS I was the most prevalent.…”

Section: Discussionsupporting

confidence: 83%

“…This could be due to lack of awareness among clinicians involved in the cardiac and/or renal management of adults with Fabry disease. Unlike in Czech Republic, Australia, and Portugal (Meikle et al 1999;Poupetova et al 2010;Pinto et al 2004), NPC was also the least observed lysosomal trafficking disorder. This could be a result of overlapping clinical phenotypes such as hepatosplenomegaly, neonatal jaundice, and psychiatric disturbances (Wenger et al 2003) and limited investigational facilities for NPC.…”

Section: Discussionmentioning

confidence: 83%

“…In countries with higher incidences of aforementioned (Meikle et al 1999;Pinto et al 2004;Poupetova et al 2010). In India, very recently Indian Council of Medical Research (ICMR) has set up a special task force on LSDs which will focus on the magnitude of these disorders in different parts of the country, increase awareness among the clinicians by organizing regional training program, and establish common mutation spectrum for different LSDs.…”

Section: Discussionmentioning

confidence: 99%

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Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

et al. 2013

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Lysosomal storage disorders (LSDs) are considered to be a rare metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having coarse facial features, hepatomegaly or hepatosplenomegaly, skeletal dysplasia, neuroregression, leukodystrophy, developmental delay, cerebral-cerebellar atrophy, and abnormal ophthalmic findings. All subjects were screened for I-cell disease, glycolipid storage disorders (NiemannPick disease A/B, Gaucher), and mucopolysaccharide disorders followed by confirmatory lysosomal enzymes study from leucocytes and/or fibroblasts. Niemann-Pick disease-C (NPC) was confirmed by fibroblasts study using filipin stain. Various storage disorders were detected in 387 children (34.8 %) with highest prevalence of glycolipid storage disorders in 48 %, followed by mucopolysaccharide disorders in 22 % and defective sulfatide degradation in 14 % of the children. Less common defects were glycogen degradation defect and protein degradation defect in 5 % each, lysosomal trafficking protein defect in 4 %, and transport defect in 3 % of the patients. This study demonstrates higher incidence of Gaucher disease (16 %) followed by GM2 gangliosidosis that includes Tay-Sachs disease (10 %) and Sandhoff disease (7.8 %) and mucopolysaccharide disorders among all LSDs. Nearly 30 % of the affected children were born to consanguineous parents and this was higher (72 %) in children with Batten disease. Our study also demonstrates two common mutations c.1277_1278insTATC in 14.28 % (4/28) and c.964G>T (p.D322Y) in 10.7 % (3/28) for Tay-Sachs disease in addition to the earlier reported c.1385A>T (p.E462V) mutation in 21.42 % (6/28).

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 87%

Section: Discussionsupporting

confidence: 83%

Section: Discussionmentioning

confidence: 83%

Section: Discussionmentioning

confidence: 99%

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Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

et al. 2013

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Prevalence of Type 1 Gaucher Disease in the United States

Weinreb¹,

Andersson²,

Banikazemi³

et al. 2008

Arch Intern Med

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tonic saline led to our empirical trial of fludrocortisone, which was later supported by the results of suppressed plasma renin activity and plasma aldosterone concentration. Early administration of fludrocortisone may alleviate the need of hypertonic saline infusion and shorten hospital stay.In conclusion, we describe the biochemical changes in a case of CSW and its successful response to fludrocortisone therapy. Although the mechanism of inappropriate hyporeninemic hypoaldosteronism in CSW remains uncertain, and it may not be universal in all cases of CSW, the current case indicates that fludrocortisone therapy may be of benefit in selected adult patients with CSW and refractory hyponatremia.

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Association of Diagnosis of Leukodystrophy With Race and Ethnicity Among Pediatric and Adolescent Patients

et al. 2018

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Key Points Question Are there disparities in leukodystrophy diagnosis in patients of different racial and ethnic backgrounds? Findings This case-control study of 557 patients with a diagnosis of leukodystrophy found that US patients of racial/ethnic minorities, including those from black, black Hispanic, and white Hispanic backgrounds, were significantly less likely to be diagnosed with a leukodystrophy. Furthermore, leukodystrophy disease–associated gene allele frequencies were the same or higher in populations of Latino or African descent. Meaning Patients of racial/ethnic minorities are being underdiagnosed for leukodystrophies, which can result in a lack of treatment or insufficient treatment.

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Prevalence of lysosomal storage diseases in Portugal

Cited by 286 publications

References 9 publications

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Burden of Lysosomal Storage Disorders in India: Experience of 387 Affected Children from a Single Diagnostic Facility

Prevalence of Type 1 Gaucher Disease in the United States

Association of Diagnosis of Leukodystrophy With Race and Ethnicity Among Pediatric and Adolescent Patients

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