Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Alfadhel, Majid; Benmeakel, Mohammed; Hossain, Mohammad Arif; Mutairi, Fuad Al; Othaim, Ali Al; Alfares, Ahmed; Balwi, Mohammed Al; Alzaben, Abdullah; Eyaid, Wafaa

doi:10.1186/s13023-016-0510-3

Cited by 64 publications

(68 citation statements)

References 16 publications

(17 reference statements)

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“…It should be noticed that PKU, the most frequent IEM, is not included in our patient group since PKU and HPA are part of the national NBS program. Our spectrum for amino acid disorders shows similarity to reports from China (9,10,12) and Saudi Arabia (14). Yet in most studies from Arab and Mediterranean countries MSUD is the second most frequent amino acid disorder.…”

Section: Discussionsupporting

confidence: 56%

“…In our patient group, MMA accounted for 47.8% of all organic acidemia patients. It is interesting that in all studies conducted either as a selective screening or newborn screening, MMA is found to be the most common OAD regardless of the geographical/ethnic background of the population (1,9,10,(12)(13)(14)16). Different from previous reports the second most common OAD in our patient group was glutaric acidemia (GA) type I.…”

Section: Discussioncontrasting

confidence: 54%

“…There was only one patient with medium chain fatty acid dehydrogenase deficiency (MCAD), a disorder which is reported to be the most common in Europe and North America (2-5, 7). The rarity of MCAD is in accordance with Egypt, other Arab countries and also China (9,14,16).…”

Section: Discussionmentioning

confidence: 97%

“…In other parts of the world where there is no or a limited NBS program implemented, the laboratories performing Tandem MS analysis for clinically suspected patients, provide information regarding the frequency of these disorders (1,(9)(10)(11)(12)(13)(14). The analysis of dried blood spot (DBS) samples by Tandem MS is increasingly used by many laboratories for selective screening of metabolic diseases considering the high frequency of IEMs mostly due to high consanguinity rate in Turkey.…”

Section: Introductionmentioning

confidence: 99%

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Selective Screening for Inborn Errors of Metabolism: A Report of Six Years Experience

et al. 2017

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Background: Tandem MS analysis of dried blood spots is a widely used method for diagnosis of inborn errors of metabolism. Clinical laboratories performing this test for clinically suspected children at different ages are faced with the challenge of using appropriate reference ranges for the diagnostic markers. Objectives: Retrospective evaluation of laboratory data was performed to establish the disease spectrum and clinically relevant reference ranges for the diagnostic markers. Methods: The results of clinically suspected 4800 patients were extracted from laboratory information system and correlated with clinical data. Relevant reference ranges for the analytes in dried blood spots was determined using nonparametric statistical methods. Results: Forty four patients were diagnosed with 12 different inborn errors of metabolism. There were 23 patients with organic acid disorder, 13 patients with amino acid or urea cycle disorder and 8 patients with fatty acid oxidation disorder. The reference ranges were significantly different between the children under and over 1 year of age for some acylcarnitines (C0, C2, C3, C5OH, C14, C16 and C18) and amino acids (citrulline, arginine, tyrosine, valine and leucine). Conclusions:The interpretation of the Tandem MS analysis results showed that the difference in the reference ranges for children under or over one year of age did not affect the diagnosis for most frequent inborn errors of metabolism.

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Section: Discussionsupporting

confidence: 56%

Section: Discussioncontrasting

confidence: 54%

Section: Discussionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 99%

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Selective Screening for Inborn Errors of Metabolism: A Report of Six Years Experience

et al. 2017

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“…4 Fazio-Londe syndrome is proven to be of autosomal recessive inheritance. 5 The present patient had a homozygous stop codon mutation, c.71G>A [p(Trp24*)], in the SLC52A3 gene.…”

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confidence: 99%

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

et al. 2017

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Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III

Perveen

Gupta

Kumar

et al. 2020

American J of Med Genetics Pt A

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Glycogen storage disease type III (GSD III) is a rare autosomal recessive inborn error of glycogen degradation pathway due to deficiency or reduced activity of glycogen debranching enzyme (GDE) that results in accumulation of abnormal glycogen in the liver, muscle, and heart. The cardinal hallmarks are hepatomegaly, fasting hypoglycemia, seizures, growth retardation, progressive skeletal myopathy, and cardiomyopathy in few. To date, 258 mutations in amyloglucosidase (AGL) gene have been identified worldwide. However, the mutation spectrum in the Asian Indian region is yet to be well characterized. We investigated 24 patients of Asian origin from 21 unrelated families with a provisional diagnosis of GSD III based on clinical and biochemical criteria. Molecular diagnosis was assessed by bidirectional sequencing and the impact of novel missense variants on the tertiary (three-dimensional) structure of GDE was evaluated by molecular modeling approach. Eighteen different pathogenic variants were identified, out of which 78% were novel. Novel variants included five nonsense, three small duplications and two small deletions, a splice site variant, and three missense variants. Variations in Exons 4, 14, 19, 24, 27, and 33 accounted for 61% of the total pathogenic variants identified and Allele p.Gly798Alafs*3 showed a high allele frequency of 11%. Molecular modeling study of novel pathogenic missense variants indicated the probable underlying molecular mechanism of adverse impact of variations on the structure and catalytic function of human GDE. Our study is the first large study on GSD III from the Asian subcontinent, which further expands the mutation spectrum of AGL.

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Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia

Cited by 64 publications

References 16 publications

Selective Screening for Inborn Errors of Metabolism: A Report of Six Years Experience

Selective Screening for Inborn Errors of Metabolism: A Report of Six Years Experience

Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula

Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III

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