Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

Hertecant, Jozef; Ben-Rebeh, Imen; Marah, Muhaned A.; Abbas, Thikra; Ayadi, Leila; Ben-Salem, Salma; Al-Jasmi, Fatma; Al‐Gazali, Lihadh; Al‐Yahyaee, Said; Ali, Bassam R.

doi:10.1016/j.ejmg.2012.08.001

Cited by 16 publications

(11 citation statements)

References 24 publications

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“…20 Alkaptonuria, due to the single nucleotide deletion of c.342delA (c.174delA), was reported in a family from Al Ain, UAE; the allelic prevalence was estimated at about 1%. 21 In the UAE, screening began for PKU in 1995, for congenital hypothyroidism in 1998, sickle cell disease in 2002, congenital adrenal hyperplasia in 2005 and biotinidase deficiency in 2010.…”

Section: Discussionmentioning

confidence: 99%

“…The Centre for Arab Genomic Studies (CAGS) 6,[18][19][20][21] In the case of isovaleric aciduria, three mutations (p.R392H, p.R395Q and p.F382fs) were reported in four unrelated Emirati families and one mutation (p.E408K) in an Egyptian family. 20 Alkaptonuria, due to the single nucleotide deletion of c.342delA (c.174delA), was reported in a family from Al Ain, UAE; the allelic prevalence was estimated at about 1%.…”

Section: Discussionmentioning

confidence: 99%

“…The 10 mutations that have been previously reported only in Emiratis are denoted by double asterisks in Table 1. [17][18][19][20] The remaining 33 mutations are known mutations, which are available at the Human Gene Mutation Database. 26 Identifying mutations allows the screening of asymptomatic family members and also supports pre-implantation genetic programmes.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Al‐Shamsi¹,

Hertecant²,

Al-Hamad³

et al. 2014

SQUMJ

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Al‐Shamsi¹,

Hertecant²,

Al-Hamad³

et al. 2014

SQUMJ

Self Cite

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“…More than 60 disease-causing mutations in the IVD gene have been described. The majority are point mutations, but splice site mutations, nonsense mutations, missense mutations, deletions, and insertions have also been described [18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33].…”

Section: Argentinamentioning

confidence: 99%

Aspects of Newborn Screening in Isovaleric Acidemia

Schlune

Riederer

Mayatepek

et al. 2018

IJNS

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Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). The inclusion of IVA in NBS programs in many countries has broadened knowledge of the variability of the condition, whereas prior to NBS, two distinct clinical phenotypes were known, an "acute neonatal" and a "chronic intermittent" form. An additional biochemically mild and potentially asymptomatic form of IVA and its association with a common missense mutation, c.932C>T (p.A282V), was discovered in subjects identified through NBS. Deficiency of short/branched chain specific acyl-CoA dehydrogenase (2-methylbutyryl-CoA dehydrogenase), a defect of isoleucine degradation whose clinical significance remains unclear, also results in elevated C5-carnitine, and may therefore be detected by NBS for IVA. Treatment strategies for the long-term management of symptomatic IVA comprise the prevention of catabolism, dietary restriction of natural protein or leucine intake, and supplementation with L-carnitine and/or L-glycine. Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required.

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“…In the Middle East, ongoing research shows the importance of newborn screening to detect inborn errors of metabolism in the Arab world [17][18][19][20]. This is due to a high incidence of genetic disorders due to co-sanguinity, and there is a marked prevalence of autosomal disorders as a result.…”

Section: Casementioning

confidence: 99%

Forensic Pathology and Newborn Screening for Inborn Errors of Metabolism: Implications for the Middle East

Seulieman¹,

Rasool²,

Al-Ali³

et al. 2016

AJFSFM

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We report the postmortem findings of two infants and one child who died in Iraq. In each case, a specific clinical diagnosis was never established and all died at home. None of the cases had undergone newborn screening tests for inherited diseases.In case 1, a 3-day old neonate died without ever passing meconium. Autopsy revealed complete small intestinal obstruction due to meconium ileus. This was most likely due to cystic fibrosis. In case 2, a 6 month old boy died suddenly and unexpectedly after developing dehydration from vomiting. Autopsy revealed marked hepatomegaly with fatty infiltration that also involved the myocardium and kidney.

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Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

Cited by 16 publications

References 24 publications

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis : A Study from Tawam Hospital Metabolic Center , United Arab Emirates

Aspects of Newborn Screening in Isovaleric Acidemia

Forensic Pathology and Newborn Screening for Inborn Errors of Metabolism: Implications for the Middle East

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