A Novel Clinico-Biochemical Score for Screening of Inherited Metabolic Diseases in Children

Ali, Oshaque; Hafeez, Ayesha; Ijaz, Aamir; Lodhi, Munir Akmal; Nawaz, Muhammad Asif; Ahmed, Zeeshan

doi:10.29271/jcpsp.2018.11.853

Cited by 2 publications

(3 citation statements)

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“…11 Although IEMs are discretely rare but they collectively have high incidence and may lead to considerable mortality or long-term morbidity. 12 Often, there is a pre-existing history of an affected child in the family of such patients. Current research data regarding IMDs in Pakistan has shown a significant prevalence and Non-ketotic hyperglycinemia is the topmost disorder.…”

Section: Discussionmentioning

confidence: 99%

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Spectrum of Inherited Metabolic Diseases in neonates and children presenting at Izzat Ali Shah Hospital, Wah Cantt.

Ehtizaz¹,

Haider²,

Mahmood³

et al. 2021

JRMC

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Objective: To determine the frequency of various Inherited Metabolic Diseases (IMDs) in clinically suspected neonates and children in relation to age, gender, and distribution in rural and urban areas.Materials and Methods: A total of 275 symptomatic neonates and children were enrolled for IMDs. A complete medical history, baseline biochemical tests, cerebrospinal fluid analysis, arterial blood gases, anion gap, serum ammonia, lactate, and urinary ketones were assessed. Any significant microbiological cause for the presenting symptom was excluded. For screening of Inborn Metabolic Error simple Heel prick test was done on PerkinElmer 226 filter paper in newborns and infants. Samples were sent to Jordan for analysis. High-performance liquid chromatography combined with tandem mass spectrometry (LC-MS/MS) was the technique used in the screening of a variety of IMDs. The frequency of Inherited Metabolic Diseases and their relation with age, gender, and location was determined using the chi-square goodness of fit test. A p-value ≤ of 0.05 was considered statistically significant. Results: Of the 275 subjects screened, 47(17%) had an inherited metabolic disorder, of which 27 were male and 20 were female with a Male to Female ratio of 1.35:1. The difference in metabolic disorders was significantly different between age (p=0.01) and gender (p=0.04). Of the diagnosed cases G6PD disorder was found to be the most frequent disorder 14 (29.79%) of the total diagnosed cases, followed by Aminoaciduria in 9 (19.15%) and Carnitine Uptake Defect in 7 (14.8). Conclusion: The cases detected to have IMDs revealed a significant prevalence. G6PD was detected as the most frequent disorder. A simple Heel prick test on PerkinElmer 226 filter paper is a useful method to detect IMDs, though confirmation is usually required by other tests.

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Section: Discussionmentioning

confidence: 99%

“…Current research data regarding IMDs in Pakistan has shown a significant prevalence and Non-ketotic hyperglycinemia is the topmost disorder. 12 The timely diagnosis of IEM and early initiation of specific treatment may be life-saving in these patients.…”

Section: Discussionmentioning

confidence: 99%

Spectrum of Inherited Metabolic Diseases in neonates and children presenting at Izzat Ali Shah Hospital, Wah Cantt.

Ehtizaz¹,

Haider²,

Mahmood³

et al. 2021

JRMC

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“…18 The inherited disorders in children including the lysosomal storage disorder in Pakistan need to be focused for molecular studies and the trend has been increasing as it will provide child health care. [22][23][24][25]…”

Section: G>a Mutationmentioning

confidence: 99%

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients

Cheema¹,

Rasool

Anjum³

et al. 2020

Pak J Med Sci

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Objective: Genetic variation analysis of rare autosomal recessive Niemann-Pick disease (NPD) Pakistani patients. Methods: We sequenced the SMPD1 gene including its all coding and flanking regions in seven unrelated sporadic patients suffering from Niemann-Pick disease through targeted exome sequencing. Genetic variants mapping and their protein predictions were evaluated using different bioinformatics tools and clinical phenotypes were correlated. The study was conducted from January 2018 to March 2019 at The Children’s Hospital Lahore. Results: We have mapped five different mutations in SMPD1 gene of enrolled patients with a novel homozygous missense variant (c.1718G>C) (p.Trp573Ser) in one patient. A missense mutation (c.1267C>T) (p.His423Tyr) has been identified in three unrelated patients. A nonsense mutation (c.1327C>T) (p.Arg443Term) and one missense mutation (c.1493G>A) (p.Arg498His) mapped in one patient each. A compound heterozygous mutation has been mapped in one patient (c.740G>A) (p.Gly247Asp); (c.1493G>A) (p.Arg498His). Pathogenic effect of novel variant has been predicted through in-silico analysis and has not been reported in general overall population in the globe. Conclusion: This is the first report of genetic demographic assessment of Niemann-Pick disease in Pakistan. The mapped mutations would be helpful to build a disease variants algorithm of Pakistani population. This will be used for determining disease clinical magnitude along with provision of genetic screening services in affected families. doi: https://doi.org/10.12669/pjms.36.3.467 How to cite this:Cheema HA, Rasool IG, Anjum MN, Zahoor MY. Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients. Pak J Med Sci. 2020;36(3):---------. doi: https://doi.org/10.12669/pjms.36.3.467 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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A Novel Clinico-Biochemical Score for Screening of Inherited Metabolic Diseases in Children

Abstract: Objective: To evaluate a novel clinico-biochemical score for screening of inherited metabolic diseases (IMDs) in children in our setup.

Cited by 2 publications

References 10 publications

Spectrum of Inherited Metabolic Diseases in neonates and children presenting at Izzat Ali Shah Hospital, Wah Cantt.

Spectrum of Inherited Metabolic Diseases in neonates and children presenting at Izzat Ali Shah Hospital, Wah Cantt.

Mutational spectrum of SMPD1 gene in Pakistani Niemann-Pick disease patients

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