Dr.  Fuad Al Mutairi, MD - KASCH-KAMC - Assistant Prof

Dr. Fuad Al Mutairi

MD

KASCH-KAMC

Assistant Prof

Riyadh | Saudi Arabia

Main Specialties: Biochemical Genetics

Additional Specialties: Genetics (Clinical & Biochemical)

ORCID logohttps://orcid.org/0000-0002-7780-8863

Dr.  Fuad Al Mutairi, MD - KASCH-KAMC - Assistant Prof

Dr. Fuad Al Mutairi

MD

Introduction

Dr. Fuad Al Mutairi, consultant of Pediatrics and Biochemical Geneticist, Department of Pediatrics at King Abdulaziz Medical City (National Guard Health Affairs), Riyadh Saudi Arabia.
• Graduated from King Saud University 2001,
• Finish Saudi, Arab Board in Pediatrics Residency (2008).
• Fellowship in Biochemical Genetics (Metabolic disorders) in British Columbia Children Hospital, University of British Columbia, Vancouver BC Canada (2012).
• Member of board directors of Saudi Society of Medical Genetics (SSMG).

Primary Affiliation: KASCH-KAMC - Riyadh , Saudi Arabia

Specialties:

Additional Specialties:

Research Interests:

Education

Feb 2010 - Mar 2012
UBC Hospital
Fellow
Biochemical Diseases Department
Mar 2012
UBC, Canada
Fellowship
Biochemical Genetics
Jan 2008
PSMMC
Pediatric Residency
Jul 2001
KSU
MBBS
Collage of Medicine

Experience

Oct 2014
KAMC-KASCH
Assistant Prof
Feb 2012
PSMMC
Consultant
Feb 2010
BC Children Hospital
Clinical Fellow
Oct 2002
PSMMC
Resident/Registrar
Jun 2015
King Saud bin Abdulaziz University for Health Sciences College of Medicine
Assistant Professor
Prdiatrics
Oct 2014
King Abdulaziz Medical City
Consultant Medical Genetics
Department of Prdiatrics
King Abdullah International Medical Research Center

Publications

29Publications

1391Reads

143Profile Views

109PubMed Central Citations

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

Authors:
Dorota Monies Mohammed Abouelhoda Mirna Assoum Nabil Moghrabi Rafiullah Rafiullah Naif Almontashiri Mohammed Alowain Hamad Alzaidan Moeen Alsayed Shazia Subhani Edward Cupler Maha Faden Amal Alhashem Alya Qari Aziza Chedrawi Hisham Aldhalaan Wesam Kurdi Sameena Khan Zuhair Rahbeeni Maha Alotaibi Ewa Goljan Hadeel Elbardisy Mohamed ElKalioby Zeeshan Shah Hibah Alruwaili Amal Jaafar Ranad Albar Asma Akilan Hamsa Tayeb Asma Tahir Mohammed Fawzy Mohammed Nasr Shaza Makki Abdullah Alfaifi Hanna Akleh Suad Yamani Dalal Bubshait Mohammed Mahnashi Talal Basha Afaf Alsagheir Musad Abu Khaled Khalid Alsaleem Maisoon Almugbel Manal Badawi Fahad Bashiri Saeed Bohlega Raashida Sulaiman Ehab Tous Syed Ahmed Talal Algoufi Hamoud Al-Mousa Emadia Alaki Susan Alhumaidi Hadeel Alghamdi Malak Alghamdi Ahmed Sahly Shapar Nahrir Ali Al-Ahmari Hisham Alkuraya Ali Almehaidib Mohammed Abanemai Fahad Alsohaibaini Bandar Alsaud Rand Arnaout Ghada M H Abdel-Salam Hasan Aldhekri Suzan AlKhater Khalid Alqadi Essam Alsabban Turki Alshareef Khalid Awartani Hanaa Banjar Nada Alsahan Ibraheem Abosoudah Abdullah Alashwal Wajeeh Aldekhail Sami Alhajjar Sulaiman Al-Mayouf Abdulaziz Alsemari Walaa Alshuaibi Saeed Altala Abdulhadi Altalhi Salah Baz Muddathir Hamad Tariq Abalkhail Badi Alenazi Alya Alkaff Fahad Almohareb Fuad Al Mutairi Mona Alsaleh Abdullah Alsonbul Somaya Alzelaye Shakir Bahzad Abdulaziz Bin Manee Ola Jarrad Neama Meriki Bassem Albeirouti Amal Alqasmi Mohammed AlBalwi Nawal Makhseed Saeed Hassan Isam Salih Mustafa A Salih Marwan Shaheen Saadeh Sermin Shamsad Shahrukh Shahrukh Hashmi Ayman Shawli Ameen Tajuddin Abdullah Tamim Ahmed Alnahari Ibrahim Ghemlas Maged Hussein Sami Wali Hatem Murad Brian F Meyer Fowzan S Alkuraya

Am J Hum Genet 2019 Oct;105(4):879

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http://dx.doi.org/10.1016/j.ajhg.2019.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817532PMC
October 2019
6 Reads
10.931 Impact Factor

Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial.

BMC Pediatr 2019 Jun 13;19(1):195. Epub 2019 Jun 13.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), PO Box 22490 11426, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1186/s12887-019-1571-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6563377PMC
June 2019
13 Reads
1.918 Impact Factor

Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.

Neurogenetics 2019 05 10;20(2):109-115. Epub 2019 Apr 10.

King Abdullah International Medical Research Center (KAIMRC), College of Medicine, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s10048-019-00573-6DOI Listing
May 2019
6 Reads
2.884 Impact Factor

Severe Crohn's Disease Manifestations in a Child with Cystathionine β-Synthase Deficiency.

ACG Case Rep J 2018 5;5:e93. Epub 2018 Dec 5.

King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.14309/crj.2018.93DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6358571PMC
December 2018
9 Reads

Confirming the pathogenicity of in early onset epileptic encephalopathy.

Epilepsia Open 2018 Dec 12;3(4):524-527. Epub 2018 Nov 12.

King Abdullah International Medical Research Center (KAIMRC) Riyadh Saudi Arabia.

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http://dx.doi.org/10.1002/epi4.12263DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276780PMC
December 2018
3 Reads

Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing.

Genet Med 2018 11 22;20(11):1328-1333. Epub 2018 Mar 22.

Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1038/gim.2018.41DOI Listing
November 2018
46 Reads
2 Citations
7.330 Impact Factor

Epilepsy in Propionic Acidemia: Case Series of 14 Saudi Patients.

J Child Neurol 2018 10 17;33(11):713-717. Epub 2018 Jul 17.

1 King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/0883073818786157DOI Listing
October 2018
41 Reads
1.670 Impact Factor

h mutation causes autosomal recessive nonimmune hydrops fetalis with lymphatic dysplasia.

J Exp Med 2018 09 16;215(9):2339-2353. Epub 2018 Aug 16.

Department of Cell Biology and Physiology, University of North Carolina, Chapel Hill, NC

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http://dx.doi.org/10.1084/jem.20180528DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122977PMC
September 2018
58 Reads
12.520 Impact Factor

Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.

Clin Genet 2018 05 25;93(5):1097-1102. Epub 2018 Mar 25.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.13210DOI Listing
May 2018
6 Reads
3.931 Impact Factor

Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4.

J Cent Nerv Syst Dis 2018 28;10:1179573518759682. Epub 2018 Feb 28.

King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/1179573518759682DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843099PMC
February 2018
23 Reads

A mendelian form of neural tube defect caused by a de novo null variant in SMARCC1 in an identical twin.

Ann Neurol 2018 02 9;83(2):433-436. Epub 2018 Feb 9.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://doi.wiley.com/10.1002/ana.25152
Publisher Site
http://dx.doi.org/10.1002/ana.25152DOI Listing
February 2018
70 Reads
9.980 Impact Factor

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases.

Eur J Paediatr Neurol 2018 Jan 16;22(1):46-55. Epub 2017 Oct 16.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.10.003DOI Listing
January 2018
41 Reads
1 Citation
1.934 Impact Factor

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Pediatr Neurol 2018 01 5;78:35-40. Epub 2017 Oct 5.

Department of Medical Genetics, King Faisal Specialist Hospital, and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1016/j.pediatrneurol.2017.09.002DOI Listing
January 2018
41 Reads
1.504 Impact Factor

Peeling skin syndrome associated with novel variant in FLG2 gene.

Am J Med Genet A 2017 Dec 8;173(12):3201-3204. Epub 2017 Sep 8.

King Abdullah International Medical Research Centre, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38468DOI Listing
December 2017
10 Reads
1 Citation
2.160 Impact Factor

Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.

JIMD Rep 2018 5;40:47-53. Epub 2017 Oct 5.

Genetics Division, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Science, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/8904_2017_58DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122013PMC
October 2017
61 Reads

Congenital disorders of glycosylation: The Saudi experience.

Am J Med Genet A 2017 Oct 25;173(10):2614-2621. Epub 2017 Jul 25.

Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1002/ajmg.a.38358DOI Listing
October 2017
36 Reads
2 Citations
2.160 Impact Factor

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Authors:
Dorota Monies Mohamed Abouelhoda Moeenaldeen AlSayed Zuhair Alhassnan Maha Alotaibi Husam Kayyali Mohammed Al-Owain Ayaz Shah Zuhair Rahbeeni Mohammad A Al-Muhaizea Hamad I Alzaidan Edward Cupler Saeed Bohlega Eissa Faqeih Maha Faden Banan Alyounes Dyala Jaroudi Ewa Goljan Hadeel Elbardisy Asma Akilan Renad Albar Hesham Aldhalaan Shamshad Gulab Aziza Chedrawi Bandar K Al Saud Wesam Kurdi Nawal Makhseed Tahani Alqasim Heba Y El Khashab Hamoud Al-Mousa Amal Alhashem Imaduddin Kanaan Talal Algoufi Khalid Alsaleem Talal A Basha Fathiya Al-Murshedi Sameena Khan Adila Al-Kindy Maha Alnemer Sami Al-Hajjar Suad Alyamani Hasan Aldhekri Ali Al-Mehaidib Rand Arnaout Omar Dabbagh Mohammad Shagrani Dieter Broering Maha Tulbah Amal Alqassmi Maisoon Almugbel Mohammed AlQuaiz Abdulaziz Alsaman Khalid Al-Thihli Raashda A Sulaiman Wajeeh Al-Dekhail Abeer Alsaegh Fahad A Bashiri Alya Qari Suzan Alhomadi Hisham Alkuraya Mohammed Alsebayel Muddathir H Hamad Laszlo Szonyi Faisal Abaalkhail Sulaiman M Al-Mayouf Hamad Almojalli Khalid S Alqadi Hussien Elsiesy Taghreed M Shuaib Mohammed Zain Seidahmed Ibraheem Abosoudah Hana Akleh Abdulaziz AlGhonaium Turki M Alkharfy Fuad Al Mutairi Wafa Eyaid Abdullah Alshanbary Farrukh R Sheikh Fahad I Alsohaibani Abdullah Alsonbul Saeed Al Tala Soher Balkhy Randa Bassiouni Ahmed S Alenizi Maged H Hussein Saeed Hassan Mohamed Khalil Brahim Tabarki Saad Alshahwan Amira Oshi Yasser Sabr Saad Alsaadoun Mustafa A Salih Sarar Mohamed Habiba Sultana Abdullah Tamim Moayad El-Haj Saif Alshahrani Dalal K Bubshait Majid Alfadhel Tariq Faquih Mohamed El-Kalioby Shazia Subhani Zeeshan Shah Nabil Moghrabi Brian F Meyer Fowzan S Alkuraya

Hum Genet 2017 08 9;136(8):921-939. Epub 2017 Jun 9.

Deparment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1007/s00439-017-1821-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502059PMC
August 2017
158 Reads
8 Citations
4.824 Impact Factor

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Brain 2017 08;140(8):e49

Department of Molecular Neuroscience, Institute of Neurology, UCL Institute of Neurology, London WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awx155DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5806505PMC
August 2017
27 Reads
9.200 Impact Factor

A lethal neonatal phenotype of mitochondrial short-chain enoyl-CoA hydratase-1 deficiency.

Clin Genet 2017 Apr 30;91(4):629-633. Epub 2016 Nov 30.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1111/cge.12891DOI Listing
April 2017
7 Reads
4 Citations
3.931 Impact Factor

Diabetic ketoacidosis in vanishing white matter.

Clin Case Rep 2016 08 17;4(8):717-20. Epub 2016 Jun 17.

Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Riyadh Saudi Arabia; Department of Pediatrics College of Medicine Qassim University Almulyda Saudi Arabia.

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http://dx.doi.org/10.1002/ccr3.597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4974412PMC
August 2016
5 Reads

Guidelines for acute management of hyperammonemia in the Middle East region.

Ther Clin Risk Manag 2016 31;12:479-87. Epub 2016 Mar 31.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar.

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http://dx.doi.org/10.2147/TCRM.S93144DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4820220PMC
April 2016
62 Reads
1 Citation
1.343 Impact Factor

The fragile site WWOX gene and the developing brain.

Exp Biol Med (Maywood) 2015 Mar 21;240(3):400-2. Epub 2014 Nov 21.

Division of Metabolic and Genetics, Department of Pediatrics, Prince Sultan Military Medical City, 11159 Riyadh, Saudi Arabia.

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http://dx.doi.org/10.1177/1535370214561952DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935222PMC
March 2015
2 Reads
8 Citations

Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.

Cell Rep 2015 Jan 31;10(2):148-61. Epub 2014 Dec 31.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2014.12.015DOI Listing
January 2015
123 Reads
58 Citations
7.210 Impact Factor

Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.

Gene 2013 Jan 9;513(2):297-300. Epub 2012 Oct 9.

Department of Genetics, King Faisal Specialist Hospital and Research Centre, Saudi Arabia.

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http://dx.doi.org/10.1016/j.gene.2012.09.097DOI Listing
January 2013
98 Reads
2.140 Impact Factor

Top co-authors

Fuad Al Mutairi
Fuad Al Mutairi

KASCH-KAMC

20
Majid Alfadhel
Majid Alfadhel

King Saud bin Abdulaziz University for Health Sciences

18
Wafaa Eyaid
Wafaa Eyaid

Department of Pediatrics

8
Eissa Faqeih
Eissa Faqeih

Children's Hospital

7
Ali Alasmari
Ali Alasmari

King Saud bin Abdulaziz University for Health Sciences

7
Fowzan S Alkuraya
Fowzan S Alkuraya

King Faisal Specialist Hospital and Research Center

6
Ahmed Alfares
Ahmed Alfares

McGill University

6
Marwan Nashabat
Marwan Nashabat

King Saud bin Abdulaziz University for Health Sciences

5
Amal Alhashem
Amal Alhashem

Prince Sultan Military Medical City

5