A A2 Argininosuccinate lyase deficiency (ASA) 1 ASA X1
A AA Nonketotic hyperglycinemia (NKH) 2 NKH X2
A AB 5-oxoprolinuria (5-OXO) 3 5-OXO X3
A AC Argininemia (ARG) 4 ARG X4
A B1 Tyrosinemia type I (TYR-I) 5 TYR-1 X5
A B2 Tyrosinemia type II (TYR-II) 6 TYR-II X6
A C1 Citrullinemia I (CIT-I) 10 CIT-I X7
A C2 Citrullinemia II (CIT-II) 11 CIT-II X8
Homocitrullinuria, Hyperornithinemia,
A HC Hyperammonemia (HHH) 8 HHH X9
A HY Hypermethioninemia (MET) 9 MET X10
Ornithine Transcarbamylase Deficiency
A OD (OTC) 7 OTC X11
A P1 Prolinemia (PRO) 12 PRO X12
B 81 Biotinidase deficiency - BIO (profound) 1 BIO X1
Partial
biotinidas
B 82 Partial biotinidase 2e X2
C A1 Cystic fibrosis (CF) 1 CF X1
Non-
Classical
C AA Non-Classical Cystic Fibrosis 2 CF X2
Other
D OT Other disorder 1 disorder X1
Carnitine palmitoyl transferase deficiency
F F1 Type I (CPT-Ia) 1 CPT-Ia X1
Carnitine palmitoyl transferase deficiency
F F2 Type II (CPT-II) 2 CPT-II X2
Carnitine/acylcarnitine translocase deficiency
F F3 (CACT) 3 CACT X3
Long-chain 3-hydroxy acyl-CoA
F F4 dehydrogenase deficiency (LCHAD) 6 LCHAD X4
F F5 Glutaric acidemia II (GA-II) 7 GA-II X5
Short-chain acyl-CoA dehydrogenase
F F6 deficiency (SCAD) 8 SCAD X6
F F7 Trifunctional protein deficiency (TFP) 9 TFP X7
Very long-chain acyl-CoA dehydrogenase
F F8 deficiency (VLCAD) 10 VLCAD X8
Medium-chain acyl-CoA dehydrogenase
F F9 deficiency (MCAD) 11 MCAD X9
Long-chain acyl-CoA dehydrogenase
F FA deficiency (LCAD) 12 LCAD X10
2,4 Dienoyl-CoA reductase deficiency (DE-
F FB RED) 13 DE-RAD X11
F FC Carnitine uptake defect (CUD) 4 CUD X12
Medium/Short-chain 3-hydroxy acyl-CoA
F FD dehydrogenase (M/SCHAD) 14 M/SCHAD X13
Medium-chain ketoacyl-CoA thiolase
F FE (MCKAT) 5 MCKAT X14
Non-
classical -
F FF Non-classical - CPT-Ia 2 CPT-Ia X15
F FG Carbamoylphosphate synthetase (CPS) 15 CPS X16
F FH Ethylmalonic Encephalopathy (EMA) 15 EMA X17
G H1 Sickle cell anemia - S/S 1 S/S X1
G H2 Sickle C disease - S/C 2 S/C X2
S/Beta-
G H3 S/Beta-thalassemia - S/Beta-thal 3 thal X3
G H4 Homozygous C disease - FC 4 FC X4
G H5 Homozygous E disease - FE 5 FE X5
G H6 Homozygous Beta-thalassemia - F only 6 F only X6
G H7 Hemoglobin S Trait (Sickle Cell trait) - FAS 14 FAS X7
G H8 Hemoglobin C trait - FAC 15 FAC X8
G H9 Hemoglobin E trait - FAE 16 FAE X9
G HA Hemoglobin D or G trait - FAD/FAG 17 FAD/FAG X10
FA +
G HB Other trait - FA + Other 18 Other X11
C/Beta-
G HD Hb C Beta-thalassemia (C/Beta-thal) 12 thal X12
D/Beta-
G HE Hb D Beta-thalassemia (D/Beta-thal) 13 thal X13
E/Beta-
G HF Hb E Beta-thalassemia (E/Beta-thal) 11 thal X14
G HG Sickle O-Arab Disease (S/O Arab) 7 S/O-Arab X15
G HH Sickle D-Disease (S/D) 8 S/D X16
G HI Sickle E-Disease (S/E) 9 S/E X17
G HJ Hb H Disease (Hb H) 10 Hb H X18
G HS Hb S Other 19 S Other X19
HGB -
G HX Hemoglobin Disease Other 20 Other X20
Classical
H 31 Phenylketonuria 1 PKU X1
significant
Clinically significant variant variant
H 32 hyperphenylalaninemia (not classical PKU) 3 PKU X2
Non-
significant
Variant hyperphenylalaninemia - Not clinically Variant
H 33 significant 4 PKU X3
K K1 Krabbe Disease (Krabbe) 1 Krabbe X1
M 71 Homocystinuria (HCY) 1 HCY X1
Classical salt wasting congenital adrenal
O 91 hyperplasia (CAH) 1 SW-CAH X1
Classical simple virilizing congenital adrenal
O 92 hyperplasia (CAH) 2 SV-CAH X2
Non-
Non-classical congenital adrenal hyperplasia classical
O 93 (CAH) 3 CAH X3
Unclassified congenital adrenal hyperplasia Unclassifi
O 94 (CAH) 4 ed CAH X4
CAH other
than 21-
O 95 CAH other than 21-OH 5 OH X5
Glucose 6 phosphate dehydrogenase (G-6-
P P1 PD) 1 G6PD X1
OG O1 Glutaric aciduria Type I (GA-I) 1 GA-I X1
3-Hydroxy-3-methylglutaryl CoA lyase
R O2 deficiency (HMG) 2 HMG X2
Isobutyryl-CoA dehydrogenase deficiency
R O3 (IBG) 3 IBG X3
R O4 Isovaleric acidemia (IVA) 4 IVA X4
R O5 Malonic aciduria (MAL) 5 MAL X5
3-Methylcrotonyl-CoA carboxylase deficiency
R O6 (3-MCC) 13 3-MCC X6
Methylmalonic acidemia [methylmalonyl-CoA
R O7 mutase] (MUT) 6 MUT X7
Mitochondrial acetoacetyl-CoA thiolase
R O8 deficiency (BKT) 9 BKT X8
R O9 Propionic acidemia (PROP) 15 PROP X9
2-Methylbutryrl-CoA dehydrogenase
R OA deficiency (2MBG) 12 2MBG X10
R OB Multiple CoA Carboxylase Deficiency (MCD) 10 MCD X11
2-Methyl-3-hydroxybutyric CoA
R OC dehydrogenase deficiency (2M3HBA) 11 2M3HBA X12
R OE 3-Methylglutaconic Aciduria (3MGA) 14 3MGA X13
R OF Methylmalonic acidemia (Cbl C,D) 8 Cbl C,D X14
Methylmalonic acidemia [Vitamin B12
R OG Disorder] (Cbl A,B) 7 Cbl A,B X15
R OH MS/MS Other 16 Other X16
Galactose Transferase Deficiency - GALT
S 51 (Classical) 1 GALT X1
Variant
S 52 Galactosemia variant 4 GAL X2
S 53 Galactokinase Deficiency (GALK) 2 GALK X3
S 54 Galactose Epimerase Deficiency (GALE) 3 GALE X4
T T1 Toxoplasmosis (TOXO) 1 TOXO X1
U 61 Maple syrup urine disease (MSUD) 1 MSUD X1
V 21 HIV-1 Antibodies (HIV-1) 1 HIV-1 X1
Primary
Y 41 Congenital hypothyroidism (CH) 1 CH X1
Secondar
Y 42 Secondary hypothyroidism 2 y CH X2
Transient
Y 43 Transient hypothyroidism 3 CH X3
Other
types of
Y 44 Other types of hypothyroidism 4 CH X4
No
conditions
identified
Z O1 No conditions identified to date 99 to date X1
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