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Table 4 Summary of all treatable IEMs (n = 38, 57%) that can be detected by ‘1 st -tier’ metabolic screening tests, which are affordable and accessible, with the potential to identify multiple IEMs

From: Treatable inborn errors of metabolism presenting as cerebral palsy mimics: systematic literature review

Blood tests    
Acylcarnitine profiles (n = 3) MCAD deficiency   
SCAD deficiency   
VLCAD deficiency   
Free-to-total serum/plasma carnitine (n = 1) Carnitine palmitoyltransferase I deficiency   
Plasma Amino Acids (n = 10) Argininemia Hartnup disease MTHFR Deficiency (&tHcy)
Argininosuccinate lyase deficiency HHH syndrome Ornithine transcarbamylase deficiency
Citrullinemia type I Maple syrup urine disease Phenylketonuria (PKU)
Citrullinemia, type II   
Plasma cholesterol (n = 1) Cerebrotendinous xanthomatosis (CTX)   
Serum copper & ceruloplasmin (n = 2) Menkes Disease (& urine deoxypyridinoline)   
Wilson Disease (& urine copper)   
Urine tests    
Urine creatine metabolites (n = 1) GAMT deficiency   
Urine oligosaccharides (n = 1) Fucosidosis   
Urine organic acids (n = 17) 3-Methylglutaconic aciduria type 1 Ethylmalonic encephalopathy (& ACP) MHBD deficiency
3-Methylcrotonyl-CoA carboxylase (MCC) deficiency (& ACP) SSADH HMG-CoA lyase deficiency
β-Ketothiolase deficiency Glutaric aciduria type I mHMG-CoA synthase deficiency
Cobalamin deficiencies (& PAA) Holocarboxylase synthetase deficiency Multiple acyl-CoA-dehydrogenase deficiency (MADD)
Cystathionine β-synthase deficiency Isovaleric academia Propionic academia
  Methylmalonic academia SCOT deficiency
Urine purines & pyrimidines (n = 2) Lesch-Nyhan syndrome   
Molybdenum cofactor deficiency   
  1. Abbreviations include: ACP acylcarnitine profiles, tHcy total homocystine, PAA plasma amnio acids.