Chapter title |
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency
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Chapter number | 58 |
Book title |
JIMD Reports, Volume 40
|
Published in |
JIMD Reports, January 2017
|
DOI | 10.1007/8904_2017_58 |
Pubmed ID | |
Book ISBNs |
978-3-66-257879-7, 978-3-66-257880-3
|
Authors |
Abdulrahman Obaid, Marwan Nashabat, Majid Alfadhel, Ali Alasmari, Fuad Al Mutairi, Abdulrahman Alswaid, Eissa Faqeih, Aziza Mushiba, Marwah Albanyan, Maryam Alalwan, Deborah Marsden, Wafaa Eyaid, Obaid, Abdulrahman, Nashabat, Marwan, Alfadhel, Majid, Alasmari, Ali, Al Mutairi, Fuad, Alswaid, Abdulrahman, Faqeih, Eissa, Mushiba, Aziza, Albanyan, Marwah, Alalwan, Maryam, Marsden, Deborah, Eyaid, Wafaa |
Abstract |
Very long chain acyl CoA dehydrogenase (VLCAD) deficiency (OMIM#201475) is an autosomal recessive disorder of fatty acid beta oxidation caused by defect in the ACADVL. The aim of this study was to analyze the clinical, biochemical, and molecular features of VLCAD deficiency in Saudi Arabia, including the treatment and outcome. We carried out a retrospective chart review analysis of 37 VLCAD deficiency patients from two tertiary centers in Saudi Arabia, over a 14-year period (2002-2016). Twenty-three patients were managed at King Abdul-Aziz Medical City and fourteen patients at King Fahad Medical City. Severe early onset VLCAD deficiency is the most frequent phenotype in our patients, caused by four different mutations in ACADVL; 31 patients (83.7%) had a homozygous nonsense mutation in exon 2 of ACADVL c.65C>A;p. Ser22X. Twenty-three patients died before the age of 2 years, despite early detection by newborn screening and implementation of treatment, including supplementation with medium chain triglycerides. This study reports the clinical, biochemical, molecular findings, treatment, and outcome of patients with VLCAD deficiency over the last 14 years. We identified the most common variant and one new variant in ACADVL. Despite early diagnosis and treatment, the outcome of VLCAD deficiency in this Saudi Arabian population remains poor. Preventive measures, such as prenatal diagnosis, could be implemented. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Saudi Arabia | 5 | 56% |
Unknown | 4 | 44% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 3 | 33% |
Members of the public | 3 | 33% |
Science communicators (journalists, bloggers, editors) | 2 | 22% |
Practitioners (doctors, other healthcare professionals) | 1 | 11% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 12 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 3 | 25% |
Professor > Associate Professor | 2 | 17% |
Student > Bachelor | 2 | 17% |
Other | 1 | 8% |
Unknown | 4 | 33% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 50% |
Biochemistry, Genetics and Molecular Biology | 2 | 17% |
Unknown | 4 | 33% |