Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt

Magdy, Rofaida M.; Abd-Elkhalek, Heba Salah; Bakheet, Mohamed A.; Mohamed, Montaser M.

doi:10.1016/j.arcped.2021.11.002

Cited by 10 publications

(16 citation statements)

References 18 publications

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“…In a third study, 410/2934 (14%) high‐risk children were diagnosed with IEMs; OAs were present in 16% of IEMs, with glutaric aciduria type I (GA‐I) being the most common phenotype (49%) (unpublished data). Similar to our unpublished data, 93/308 (30.2%) were confirmed to have IEMs in a recent selective study of high‐risk Egyptian children with suspected IEMs using MS/MS and GA‐I was the second most commonly detected IEM (19.4%) 11 …”

Section: Introductionsupporting

confidence: 88%

“…This differs from the findings of the selective screening studies 9,10 performed in the same clinic at CUCH, where MMA was the most common organic aciduria (~13%). However, GA‐I was the second 1,28 or the third 11 most common organic aciduria subtype in other Egyptian selective screening studies. The different cut‐offs used in our previous selective screening studies might explain the low detection rates of GA‐I encountered in these studies and the difference in the frequency of GA‐I detected in other studies.…”

Section: Discussionmentioning

confidence: 84%

“…Maple syrup urine disease (MSUD) was the most commonly detected phenotype among patients with organic acid alteration detected in the PICUs 16 . It was the third most common disorder in another Egyptian selective screening study 11 …”

Section: Discussionmentioning

confidence: 99%

“…16 It was the third most common disorder in another Egyptian selective screening study. 11 Making a diagnosis of classic organic aciduria requires a high level of clinical suspicion and well equipped laboratories. 27 The laboratory techniques essential for the diagnosis of metabolic diseases such as GC-MS are expensive and far beyond the financial ability of developing countries.…”

Section: Discussionmentioning

confidence: 99%

“…Similar to our unpublished data, 93/308 (30.2%) were confirmed to have IEMs in a recent selective study of high-risk Egyptian children with suspected IEMs using MS/MS and GA-I was the second most commonly detected IEM (19.4%). 11 Many studies reported that IEMs, and especially OAs, are common among critically ill children admitted to the emergency departments and the pediatric intensive care units (PICUs). [12][13][14][15][16][17] In a study of 139 patients with critical neurological symptoms admitted to the PICU-CUCH, non-traumatic coma constituted 83% of the cases, among which the toxic/metabolic cause accounted for 53% of the cases.…”

Section: Introductionmentioning

confidence: 99%

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Organic acidurias in Egyptian children: The urge for high‐risk screening

Mehaney

Seliem

Selim

et al. 2023

Pediatrics International

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BackgroundOrganic acidurias are a group of inborn errors of metabolism. They present a significant diagnostic challenge and are associated with serious morbidity and mortality. They are considered the most frequent inborn errors of metabolism among high‐risk children. Gas chromatography–mass spectrometry is a reliable diagnostic technique for organic acidurias.This hospital‐based study aimed to quantify the frequency of organic acidurias among a group of high‐risk Egyptian pediatric patients and to highlight the importance of high‐risk screening for such disorders.MethodsOne hundred and fifty high‐risk children who presented to the inherited metabolic disease unit and the pediatric intensive care units of Cairo University Children Hospital were tested for urine organic acids using gas chromatography–mass spectrometry.ResultsThirty percent (45/150) of the patients were confirmed as having an altered organic acids profile. Neurological manifestations were the most common presentation. Glutaric aciduria type I and maple‐syrup urine disease were the most common disorders encountered among the group that was studied.ConclusionOrganic acid detection by gas chromatography–mass spectrometry is key to the diagnosis of many metabolic disorders. Until a national expanded newborn screening program is established, high‐risk screening is strongly encouraged for the early detection of, and proper intervention for such disorders among Egyptian children.

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Section: Introductionsupporting

confidence: 88%

Section: Discussionmentioning

confidence: 84%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Organic acidurias in Egyptian children: The urge for high‐risk screening

Mehaney

Seliem

Selim

et al. 2023

Pediatrics International

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Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications

Heinken,

El Kouche,

Guéant-Rodriguez

et al. 2024

Metabolism

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Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease

Abdelkhalek,

Hussein,

Mahmoud

et al. 2024

Sci Rep

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Maple Syrup Urine Disease (MSUD, OMIM# 248600) is an autosomal recessive inborn error of metabolism characterized by elevated branched chain amino acids (BCAA) leucine/isoleucine and valine in blood of affected children. The phenotypic and genotypic spectrum of MSUD is largely unreported in Egypt. We recruited ten patients (4 males/6 females, 2weeks-12years) from nine unrelated families with clinical and biochemical evidence of MSUD. We performed Sanger sequencing for the three most-commonly responsible genes: BCKDHA, BCKDHB and DBT and conducted exome sequencing for unresolved cases. Through Sanger sequencing, we detected eight homozygous pathogenic/likely pathogenic variants (four in BCKDHB, three in BCKDHA and one in DBT gene) in eight different families. The proband of family VI, who had no significant genetic findings by Sanger, had a peculiar phenotype and atypical radiological findings. His exome sequencing revealed a previously reported homozygous likely pathogenic variant in the RARS2 gene (NM_020320.5:c.1026G > A;p.(Met342Ile)) causing the mitochondrial-encephalopathy disorder pontocerebellar hypoplasia, type 6 (OMIM# 611523). Furthermore, the copy-number-variant analysis of the exome data revealed a biallelic duplication affecting exons 2–6 of the BCKDHB gene (GRCh38: Chr.6-g.80127496:80171441dup) evaluated as variant of uncertain significance but expected to cause a breakpoint and may disrupt gene function, which can explain the markedly elevated BCAA levels in the patient’s blood. In conclusion, we expanded the genotypic and phenotypic spectrum of the disease and showed that aggressive intervention with specific treatment in the first few days of life resulted in normal development even in a developing country setting. Inclusion of MSUD in the national newborn screening program in Egypt is highly recommended.

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Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt

Cited by 10 publications

References 18 publications

Organic acidurias in Egyptian children: The urge for high‐risk screening

Organic acidurias in Egyptian children: The urge for high‐risk screening

Towards personalized genome-scale modeling of inborn errors of metabolism for systems medicine applications

Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease

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