title: Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
abstract: Defects in the human gene encoding methylmalonyl-CoA mutase enzyme (MCM) give rise to a rare autosomal recessive inherited disorder of propionate metabolism termed mut methylmalonic acidemia (MMA). Patients with mut MMA have been divided into two subgroups: mut0with complete loss of MCM activity and mut-with residual activity in the presence of adenosylcobalamin (AdoCbl). The disease typically presents in the first weeks or months of life and is clinically characterized by recurrent vomiting, metabolic acidosis, hyperammonemia, lethargy, poor feeding, failure to thrive and neurological deficit. To better elucidate the spectrum of mutations causing mut MMA in Saudi patients, we screened a cohort of 60 Saudi patients affected by either forms of the disease for mutations in the MUT gene. A total of 13 different mutations, including seven previously reported missense changes and six novel mutations, were detected in a homozygous state except for two compound heterozygous cases. The six novel mutations identified herein consist of three nonsense, two missense and one frameshift, distributed throughout the whole protein. This study describes for the first time the clinical and mutational spectrum of mut MMA in Saudi Arabian patients.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Faiqa
authors.initials: F
authors.lastname: Imtiaz
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Bashayer M
authors.initials: BM
authors.lastname: Al-Mubarak
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Abeer
authors.initials: A
authors.lastname: Al-Mostafa
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Mohamed
authors.initials: M
authors.lastname: Al-Hamed
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Rabab
authors.initials: R
authors.lastname: Allam
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Al-Hassnan
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Mohammed
authors.initials: M
authors.lastname: Al-Owain
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Hamad
authors.initials: H
authors.lastname: Al-Zaidan
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Zuhair
authors.initials: Z
authors.lastname: Rahbeeni
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia.
authors.forename: Alya
authors.initials: A
authors.lastname: Qari
authors.affiliation: Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Eissa Ali
authors.initials: EA
authors.lastname: Faqeih
authors.affiliation: Department of Pediatrics, King Fahad Medical City, Riyadh, Saudi Arabia.
authors.forename: Ali
authors.initials: A
authors.lastname: Alasmari
authors.affiliation: Division of Genetics, Department of Pediatrics, Prince Sultan Medical Military City, Riyadh, Saudi Arabia.
authors.forename: Fuad
authors.initials: F
authors.lastname: Al-Mutairi
authors.affiliation: Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.|Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
authors.forename: Majid
authors.initials: M
authors.lastname: Alfadhel
authors.affiliation: Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.|Division of Genetics, Department of Pediatrics, King Saud bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
authors.forename: Wafaa M
authors.initials: WM
authors.lastname: Eyaid
authors.affiliation: Pharmagene Specialized Analytical Services, Aman Street, Cairo, Egypt.
authors.forename: Mohamed S
authors.initials: MS
authors.lastname: Rashed
authors.affiliation: Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, 3354, Riyadh, 11211, Saudi Arabia. moeen@kfshrc.edu.sa.
authors.forename: Moeenaldeen
authors.initials: M
authors.lastname: Al-Sayed