Table 1.

IEMs that can be associated to the NMR-based urine analysis.

IEM	Reference metabolites	Support Metabolites	$\overline{F_{global}}$
Organic Acidurias
2-ketoadipic acidemia	80, 105, 135		1,82e-6
3-Hydroxy-3-Methylglutaryl-CoA-lyase Deficiency	17, 20, 25	24, 38, 84	1.74e-04
3-Hydroxyisobutiric aciduria	8, 20, 21, 102		n. a.
3-Methyl-crotonyl-glycinuria	20, 24	13	1.61e-3
3-Methyl-glutaconic acidurias	20, 25, 103	54, 132, 135	1.58e-2
Biotinidase deficiency	20, 24, 102	21	2.90e-2
β-Ketothiolase deficiency	25, 143	18, 20, 21, 24, 38	>7.14e-2
Canavan disease	110	135	>7.14e-4
Cobalamin malabsortion	108		4.13e-6
Ethylmalonic encephalopathy	43, 78, 80, 102, 135	12, 114	2.34e-3
Fumaric aciduria	80, 135		7.14e-4
Glutaric aciduria type I	19, 76, 84	18	5.38e-3
Glutaric aciduria type I (low excretor)	19, 76, 84		5.38e-3
Glutaric aciduria type I (non-excretor)	19, 76		n. a.
Glutaric aciduria type II	12, 78, 84, 92	19, 76, 114, 134	2.34e-3
Glutaric aciduria type II (late onset)	20, 78, 84		2.34e-3
Glutaric aciduria type III	84		n.a.
Hyperoxaluria type II	87		>3.09e-1
Isovaleric aciduria	20, 114	12, 18, 86, 108	n. a.
Malonyl-CoA decarboxylase deficiency	78, 108, 135		7.14e-4
Methylmalonic aciduria	16, 75, 91, 129		3.19e-2
Methylmalonate semialdehyde dehydrogenase deficiency	21, 43, 102, 108		2.00e-4
MMA Cbl A deficiency	108	22, 86, 89, 99	4.13e-6
Propionic acidemia	18, 21, 38, 40, 143	3, 22, 86, 89, 99, 128, 129	6.66e-2
Pyroglutamic acidemia	99		n. a.
Transcobalamin II deficiency	108		n. a.
Trimethylaminuria	145		4.25e-3
Amino Acidurias
Argininemia	117, 147	88, 89	4.67e-3
Argininosuccinic aciduria	47, 117, 147	86, 89	4.37e-3
Cystinuria	46, 58		4.01e-5
Dicarboxylic aminoaciduria	82		n. a.
Dimethylglycine dehydrogenase deficiency	49, 115		5.91e-12
Hartnup disease	43, 83, 98, 103, 149	75, 101	4.39e-4
Hawkinsinuria	32, 99		8.54e-2
Holocarboxylase syntetase deficiency	20, 21, 22		2.07e-1
Homocystinuria	97	49, 107	n.a.
Kyneureninase deficiency	74, 150		n. a.
Maple Sirup Urine disease	9, 15, 23	3, 8, 14, 18, 98, 103, 149	8.46e-8
Methionine malabsortion	11		n. a.
Mild Phenylketonuria	116, 124		n. a.
Phenylketonuria	10, 26, 32, 112, 123, 124, 125	37, 65	n. a.
Saccharopinuria	55		n. a.
Sarcosinemia	134		4.56e-1
Tyrosinemia type I	31, 32, 33, 75, 136	35, 113, 147	5.83e-3
Tyrosinemia type II	31, 33	113	3.51e-2
Tyrosinemia type III	31, 32, 33		>7.62e-2
Transient newborn tyrosinemia	31, 33		3.51e-2
Valinemia	149		4.39e-4
Fatty Acid Oxidation Disorders
3-Oxoacid CoA transferase deficiency	18, 38		5.38e-3
Long Chain 3-hydroxyacyl-CoA dehydrogenase deficiency	18		6.66e-2
Short Chain Acyl-CoA dehydrogenase deficiency	12, 78		4.92e-5
Short Chain 3-hydroxyacyl-CoA dehydrogenase deficiency	18		6.66e-2
Urea Cycle Disorders
Carbamoyl Phosphate synthetase I deficiency	86, 99, 147		4.37e-3
Citrullinemia	55, 117, 147, 148	47, 61, 89	3.47e-1
Neonatal intrahepatic cholestasis	32		n. a.
Ornitine carbamoyltransferase deficiency	117, 147, 148	86, 89, 99	4.67e-3
Creatine Deficiencies
Creatine transport deficiency	56, 57		n. a.
Guanidinoacetate Methyltransferase deficiency	88		n. a.
Purine/Pyrimidine Disorders
Dihydropyrimidine Dehydrogenase deficiency	141, 147		4.37e-3
Dihydropyriminidase deficiency	70, 71	141, 146, 147	4.37e-3
Orotic aciduria	117		n. a.
Carbohydrate Disorders
Fructose-1,6-bisphosphatase Deficiency	18, 38, 40	85	>7.14e-2
Fanconi-Bickel syndrome	63	61, 81	>3.47e-1
Galactosemia	61, 81	60	3.47e-1
Lysosomal Disorders
Tay-Sachs disease	99		n. a.
Mitochondrial Disorders
Dihydrolipoyl dehydrogenase E3	14, 23		2.29e-4
Lactic acidemia	43, 102	21	2.9e-2
Pyruvate carboxylase deficiency	18, 40, 102	43, 135	5.38e-3
Porphyrias
Acute Intermittent Porphyria	35		1.49e-5
Delta-aminolevulinic acid dehydratese deficiency	35		1.49e-5
Other Disorders
Asphyxia	23, 102		4.03e-2
Aminoacylase I deficiency	111		n. a.
GABA transaminase deficiency	27, 55		>1.24e-1
Molybdenum cofactor deficiency	139		1.42e-2
Ketosis	18, 38		6.66e-2

List of different inborn errors of metabolism that can be identified by NMR. Reference metabolites are required to unambiguously identify a given IEM. Support Metabolites add value to confirm a specific IEM and/or help to discriminate between related IEMs. All numbers are related to the metabolites listed in Table S2. $\overline{F_{global}}$ describes the probability for the test to identify a potential IEM case in the Basque Country.