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Table 1. Different numbers of IMDs included in the conventional NBS in three selected European countries (Spain, Netherlands, and
Italy)
Treatments approved by the European NBS-
Medicines Agency (not necessarily NBS- NBS-
Condition Gene/s implying that the treatment is available (Andalucí Netherlands Italy
in a specific country) a/ Spain)
Biotinidase deficiency BTD Biotin X X
Multiple carboxylase (MCD) HLCS Biotin X X X
Holocarboxylase synthetase
deficiency
Classic galactosemia (GALT) GALT Galactose free diet X X
deficiency
Galactokinase (GALK) GALK1 Galactose/lactose-restricted diet X
deficiency
Hyperphenylalaninemia (HPA) PAH Low phenylalanine diet, tetrahydrobiopterin X X X
Phenylketonuria (PKU) PAH low phenylalanine diet, pegvaliase, X X X
tetrahydrobiopterin
Tetrahydrobiopterin (BH4) GCH1, PCBD1, Tetrahydrobiopterin, levodopa combined with a X Tested only if X
deficiency PTS decarboxylase inhibitor, 5-hydroxytryptophan phenylalanine is
increased
Dihydropterin reductase QDPR Tetrahydrobiopterin, levodopa combined with a X X X
(DHPR) deficiency decarboxylase inhibitor, 5-hydroxytryptophan,
low phenylalanine diet
Maple syrup urine disease BCKDHA, Dietary management, thiamine X X X
(MSUD) BCKDHB, DBT
Branched-chain ketoacid BCKDK Dietary management, branch chain amino acid X
dehydrogenase kinase (BCKDK) supplementation
deficiency
Tyrosinemia type 1 FAH Nitisinone, low-phenylalanine-tyrosine diet X X X
Tyrosinemia type 2, and type 3 TAT Low-phenylalanine-tyrosine diet X X
Argininemia deficiency ARG1 Protein restriction, liver transplant, sodium X X
(ARG1D) benzoate, phenylbutyrate (sodium, glycerol)
Argininosuccinic aciduria (ASA) ASL Protein restriction, liver transplant, sodium X X
benzoate, phenylbutyrate (sodium, glycerol)
Citrullinemia type 1 ASS1 Protein restriction, sodium phenylbutyrate, X X
glycerol phenylbutyrate, L-carnitine, liver
transplantation
Citrullinemia type 2 SLC25A13 MCT milk and lactose-free milk, lipid-soluble X X
vitamins, and ursodeoxycholic acid. Liver
transplantation
Methionine adenosyltransferase MAT1A Low methionine diet (some patients) X X
(MAT) deficiency
Classic Homocystinuria (CBS) CBS Vitamin B6 (pyridoxine), methionine-restricted X X
deficiency diet, folate, vitamin B12, betaine
Remethylation defects MTHFR Betaine, 5-methyltetrahydrofolate X X
Glutaric aciduria type 1 (GA1) GCDH avoid fasting, carnitine, protein-restricted diet, X X X
restrict lysine, hydroxylysine, and tryptophan
Isovaleric acidemia (IVA) IVD Low protein diet, l-carnitine, glycine X X X
3-methylglutaconic acidemia AUH, HMGCL, Low-protein diet, carnitine X X
(primary 3-MGA) CLPB, SERAC1
2-methyl butyryl glycinuria ACADSB Carnitine X
(SBCAD) (avoidance of valproate)
Methylmalonic acidemia MMUT, MMAA, IM hydroxycobalamin, carnitine, diet, N- X Intended to find X
(Mutase deficiency, CblA, CblB) MMAB carbamylglutamate, liver transplant only MMUT
Methylmalonic acidemia with MMADHC, IM hydroxycobalamin, carnitine, diet, betaine, X X
homocystinuria (CblC, CblD) MMACHC N-carbamylglutamate, liver transplant
3-OH-3-methylglutaryl-CoA HMGCL IV glucose during acute episodes, avoid fasting, X X X
lyase deficiency (HMG) carnitine, protein-restricted diet
Beta-ketothiolase deficiency ACAT1 Avoid fasting, carnitine, riboflavin, protein- X X
(BKT) restricted diet
Mitochondrial acetoacetyl CoA