Sanfilippo syndrome, glucose‐6‐phosphate dehydrogenase deficiency and sickle cell/β<sup>+</sup> thalassemia in a child: The burden of consanguinity

Mohamed, Sarar

doi:10.1002/ajmg.a.36180

Cited by 7 publications

(5 citation statements)

References 17 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This is supported by the higher rate of consanguinity between parents in Ad Durayhimi than Al Marawi’ah (46.8 vs 35.1 %). High consanguinity rate within communities is a major determinant of the prevalence and burden of X-linked genetic disorders, including G6PD deficiency [ 41 , 42 ]. Like gender of the children, multivariable analysis identifies the district of residence and consanguinity as independent risk factors for G6PD deficiency at the cut-off of ≤30 % of normal enzyme activity among children in Hodeidah.…”

Section: Discussionmentioning

confidence: 99%

Glucose-6-phosphate dehydrogenase deficiency among Yemeni children residing in malaria-endemic areas of Hodeidah governorate and evaluation of a rapid diagnostic test for its detection

Abdul‐Ghani

Mahdy

Saif-Ali

et al. 2016

Malar J

View full text Add to dashboard Cite

BackgroundGlucose-6-phosphate dehydrogenase (G6PD) deficiency, the most common genetic enzymopathy worldwide, is associated with an acute haemolytic anaemia in individuals exposed to primaquine. The present study aimed to determine G6PD deficiency among Yemeni children in malaria-endemic areas as well as to assess the performance of the CareStart™ G6PD rapid diagnostic test (RDT) for its detection.MethodsA cross-sectional study recruiting 400 children from two rural districts in Hodeidah governorate was conducted. Socio-demographic data and blood samples were collected and G6PD deficiency was qualitatively detected in fresh blood in the field using the CareStart™ G6PD RDT, while the enzymatic assay was used to quantitatively measure enzyme activity. Performance of the CareStart™ G6PD RDT was assessed by calculating its sensitivity, specificity, negative predictive value (NPV), and positive predictive value (PPV) against the reference enzymatic assay.ResultsThe ranges of enzyme activity were 0.14–18.45 and 0.21–15.94 units/g haemoglobin (U/gHb) for males and females, respectively. However, adjusted male median G6PD activity was 5.0 U/gHb. Considering the adjusted male median as representing 100 % normal enzyme activity, the prevalence rates of G6PD deficiency were 12.0 and 2.3 % at the cut-off activities of ≤60 and ≤10 %, respectively. Multivariable analysis showed that gender, district of residence and consanguinity between parents were independent risk factors for G6PD deficiency at the cut-off activity of ≤30 % of normal. The CareStart™ G6PD RDT showed 100 % sensitivity and NPV for detecting G6PD deficiency at the cut-off activities of ≤10 and ≤20 % of normal activity compared to the reference enzymatic method. However, it showed specificity levels of 90.0 and 95.4 % as well as positive/deficient predictive values (PPVs) of 18.0 and 66.0 % at the cut-off activities of ≤10 and ≤20 %, respectively, compared to the reference method.ConclusionsG6PD deficiency with enzyme activity of ≤60 % of normal is prevalent among 12.0 % of children residing in malaria-endemic areas of Hodeidah governorate, with 2.3 % having severe G6PD deficiency. Gender, district of residence and consanguinity between parents are significant independent predictors of G6PD deficiency at the cut-off activity of ≤30 % of normal among children in malaria-endemic areas of Hodeidah. The CareStart™ G6PD RDT proved reliable as a point-of-care test to screen for severely G6PD-deficient patients, with 100 % sensitivity and NPV, and it can be used for making clinical decisions prior to the administration of primaquine in malaria elimination strategies.

show abstract

Section: Discussionmentioning

confidence: 99%

Glucose-6-phosphate dehydrogenase deficiency among Yemeni children residing in malaria-endemic areas of Hodeidah governorate and evaluation of a rapid diagnostic test for its detection

Abdul‐Ghani

Mahdy

Saif-Ali

et al. 2016

Malar J

View full text Add to dashboard Cite

show abstract

“…Also, the prevalence of consanguinity in Saudi population reaches 56% that predisposes to the expression of homozygous mutant genes. 10 Similarly, homozygous mutations in MUT gene were previously reported in both mut 0 and mut - patients. 3 , 4 The predominant compound heterozygous genotype makes genotype/phenotype correlation difficult as some patients who carry 2 mutations may have one mut - while the other is mut 0 .…”

Section: Discussionmentioning

confidence: 68%

Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients

Mohamed

Hamad

Abu-Amero

2015

SMJ

Self Cite

View full text Add to dashboard Cite

The aim of this report is to analyze the clinical features, and mutations of the methylmalonyl CoA mutase (MUT) gene in 2 patients with methylmalonic aciduria (MMA) attending King Saud University Medical City, Riyadh, Saudi Arabia in January 2014. The infants aged 6 days (patient 1) and 3 months (patient 2) with sepsis-like picture, metabolic acidosis, and hyperammonemia were presented. Investigations revealed high propionylcarnitine (C3), elevated urinary methylmalonic acids, 3-hydroxypropionic acids and methylcitrate, consistent with MMA. Sanger-sequencing detected a homozygous novel mutation (c.329A>G; p.Y110C) in the MUT gene in patient 1 and a heterozygous in parents. This mutation is predicted to have a damaging effect on the protein structure and function. In patient 2, we detected a novel homozygous nonsense mutation (c.2200C>T; p.Q734X) and a heterozygous in parents. This mutation leads to a premature stop-codon at codon 734 of the MUT gene. We identified 2 novel mutations in the MUT gene causing isolated MMA.

show abstract

“…Only two cases of Sanfilippo syndrome have been reported in Saudi Arabia (types A and D) [ 8 - 9 ]. To the best of our knowledge, this is the first report of Sanfilippo syndrome type B from Saudi Arabia.…”

Section: Discussionmentioning

confidence: 99%

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl

Albar¹,

AlQurashi²,

Naaman³

et al. 2022

Cureus

View full text Add to dashboard Cite

Mucopolysaccharidosis type III-B (MPS III), also known as Sanfilippo syndrome, is a rare autosomal recessive lysosomal storage disease that primarily affects the brain and spinal cord. In this report, we describe the case of an eight-year-old female child who presented to the emergency room with an asthma exacerbation. She hadcoarse facial features, thick eyebrows, deep-seated eyes, thinning coarse hair, and macrocephaly. Moreover, she suffered from hepatosplenomegaly,generalized muscular atrophy, global developmental delay, and scoliosis. Urinary glycosaminoglycans (GAGs) were within normal limits. Full genetic testing confirmed the diagnosis of Sanfilippo syndrome type B with a deficiency of alpha-Nacetylglucosaminidase caused by a homozygous mutation c.889C>T, p.(Arg297*) in the NAGLU (N-acetylalpha-glucosaminidase) gene. Chromosomal microarray analysis (CMA) showed a copy number variant (CNV) within the 1q24 region. Thus far, CNVs similar in size and position have not been reported in the literature, making this a novel mutation.

show abstract

Sanfilippo syndrome, glucose‐6‐phosphate dehydrogenase deficiency and sickle cell/β⁺ thalassemia in a child: The burden of consanguinity

Cited by 7 publications

References 17 publications

Glucose-6-phosphate dehydrogenase deficiency among Yemeni children residing in malaria-endemic areas of Hodeidah governorate and evaluation of a rapid diagnostic test for its detection

Glucose-6-phosphate dehydrogenase deficiency among Yemeni children residing in malaria-endemic areas of Hodeidah governorate and evaluation of a rapid diagnostic test for its detection

Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl

Contact Info

Product

Resources

About

Sanfilippo syndrome, glucose‐6‐phosphate dehydrogenase deficiency and sickle cell/β+ thalassemia in a child: The burden of consanguinity

Cited by 7 publications

References 17 publications

Glucose-6-phosphate dehydrogenase deficiency among Yemeni children residing in malaria-endemic areas of Hodeidah governorate and evaluation of a rapid diagnostic test for its detection

Glucose-6-phosphate dehydrogenase deficiency among Yemeni children residing in malaria-endemic areas of Hodeidah governorate and evaluation of a rapid diagnostic test for its detection

Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients

A Novel Mutation in the NAGLU (N-Acetyl-Alpha-Glucosaminidase) Gene Associated With Mucopolysaccharidosis Type III-B in a Saudi Girl

Contact Info

Product

Resources

About

Sanfilippo syndrome, glucose‐6‐phosphate dehydrogenase deficiency and sickle cell/β⁺ thalassemia in a child: The burden of consanguinity