Saudi aminoacidemias: a six-year study.
More than 2,500 samples were analyzed and we found 135 abnormal amino acid patients in different categories. The major four diseases are: Maple syrup urine disease (MSUD), Phenylketonuria (PKU) both classical PKU due to L-phenylalanine hydroxylase deficiency and 6-pyruvoyl tetrahydropterin synthase (6PTPS) deficiency, homocystinuria and Tyrosinemia.
Subramanyam
S B
SB
Department of Biological and Medical Research, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D000596:Amino Acids / Q000097:blood*; D003241:Consanguinity; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D015997:Neonatal Screening; D012529:Saudi Arabia
D000596:Amino Acids