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Medical DepartmentsGenetics And Precision Medicine Department (GPM)GPM Educational Materials

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Page Content

Sex Linked Recessive

Whole Exome Sequencing

Methylmalonic Acidemia MMA

HMG CoA lyase deficiency

Autosomal Dominant

Beta-ketothiolase deficiency B-KT deficiency

Argininosuccinate Synthetase Deficiency ASS

Argininosuccinate Lyase Deficiency ASL

Autosomal Recessive

3-methylcrotonyl CoA carboxylase Deficiency

Isovaleric Acidemia

MCAD

Maple Syrup Urine Disease (MSUD)

National Newborn Screening Program

Phenylketonuria PKU

Propionic Acidemia (PA)

VLCAD

Last Modified: 9/9/2025 10:45 AM Saudi Arabia Time

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