Disorder | N | Group 1 NBS | Group 2 symptomatic | Group 3 high risk | Treatment | Confirmation of diagnosis Minimal criteria to accept diagnosis as confirmed | ||
---|---|---|---|---|---|---|---|---|
 |  |  |  |  | Yes | No | Un-known |  |
Amino acid disorders/ Urea cycle disorders | ||||||||
PKUa,f | 85 | 84 |  | 1b | 79 | 0 | 6 | Blood phenylalanine ≥ 600 μmol/L, normal urinary pterins and DBS dihydropteridine reductase activity |
MHPa,f | 88 | 88 |  |  | 2 | 61 | 25 | First and control phenylalanine levels < 600 μmol/L, phenylalanine/tyrosine < 3, normal urinary pterins and DBS dihydropteridine reductase activity |
PTPSDe | 1 | 1 | Â | Â | 1 | Â | Â | Characteristic pterin profile in urine |
MSUDa, e | 7 | 4 | 1 | 2 | 7 | Â | Â | Elevated branched-chain amino acids including alloisoleucine |
TYR Ie | 2 | 2 | Â | Â | 2 | Â | Â | Elevated succinylacetone in urine |
TYR IIIf | 1 | 1 |  |  | 1 |  |  | Tyrosine persistently > 500 μM, succinylacetone in urine normal, no clinical indication for tyrosinaemia type II or liver dysfunction |
Homocystinuriaf | 0 | Â | Â | Â | Â | Â | Â | Characteristic profile of homocysteine, methionine, cysteine in plasma |
NKHc,f | 1 | 1 | Â | Â | Â | 1 | Â | Elevated glycine in plasma and CSF and pathological ratio plasma/CSF glycine |
CIT I classice | 4 | 1 | 3 | Â | 3 | Â | 1 | Characteristic amino acid profile in plasma and ammonia in blood |
CIT I mildf | 6 | 6 | Â | Â | 1 | 5 | Â | Characteristic amino acid profile in plasma and ammonia in blood, molecular genetic analysis |
ASLDe | 1 | Â | Â | 1 | 1 | Â | Â | Characteristic amino acid profile in plasma and urine |
Arginase deficiencyf | 0 | Â | Â | Â | Â | Â | Â | Enzyme deficiency in erythrocytes |
Fatty acid oxidation disorders | Â | Â | Â | Â | ||||
CPT IDa,e | 1 | 1 | Â | Â | 1 | Â | Â | Enzyme deficiency in fibroblasts |
CPT IIDa,e | 1 | 1 | Â | Â | 1 | Â | Â | Enzyme deficiency in fibroblasts |
CACTDa,e | 0 | Â | Â | Â | Â | Â | Â | Enzyme deficiency in fibroblasts |
CTDe | 3 | 3 | Â | Â | 3 | Â | Â | Pathological tubular carnitine reabsorption, fibroblast transport studies |
MCADDa,e | 81 | 77 | 2 | 2 | 70 | 1 | 10 | Characteristic acylcarnitine profile in plasma/DBS and/or hexanoylglycine in urine and/or informative genotype |
LCHADD/ mTFPa,c,e | 6 | 5 | Â | 1 | 5 | Â | 1 | Characteristic acylcarnitine profile in plasma/DBS and/or informative genotype and/or enzyme activity |
VLCADDa,e | 6 | 6 | Â | Â | 6 | Â | Â | Characteristic acylcarnitine profile in plasma/DBS and/or enzyme activity in lymphocytes or fibroblasts and/or informative genotype |
SCADDf | 9 | 9 | Â | Â | Â | 3 | 6 | Characteristic acylcarnitine profile in plasma/DBS and ethylmalonic acid in urine and enzyme activity |
MADDe | 3 | 3 | Â | Â | 2 | Â | 1 | Characteristic profiles of acylcarnitines in plasma and organic acids in urine |
Organic acid disorders | Â | Â | Â | Â | Â | Â | ||
GA Ia,e | 6 | 6 | Â | Â | 6 | Â | Â | Characteristic urinary organic acid profile, informative genotype |
IVA classica,e | 5 | 4 | 1 | Â | 5 | Â | Â | Characteristic urinary organic acid profile |
IVA milda,f | 10 | 9 | Â | 1 | 10 | Â | Â | Characteristic urinary organic acid profile, informative genotype |
MBDf | 0 | Â | Â | Â | Â | Â | Â | Characteristic urinary organic acid profile |
MMA/Cble | 4 | 3 | 1 | Â | 4 | Â | Â | Characteristic urinary organic acid profile +/- abnormal concentrations of plasma homocysteine and methionine (complementation studies in fibroblasts in all patients) |
PAe | 4 | 3 | 1 | Â | 4 | Â | Â | Characteristic urinary organic acid profile |
3-MCCDf | 8 | 8 | Â | Â | 5 | 2 | 1 | Characteristic urinary organic acid profile |
MHBDe | 0 | Â | Â | Â | Â | Â | Â | Characteristic urinary organic acid profile, informative genotype |
MGAe | 0 | Â | Â | Â | Â | Â | Â | Characteristic urinary organic acid profile, informative genotype |
HCSDe | 0 | Â | Â | Â | Â | Â | Â | Characteristic urinary organic acid profile, enzyme deficiency |
BIODa,e | 9 | 9 | Â | Â | 7 | Â | 2 | Enzyme deficiency in DBS and/or serum |
KTDe | 0 | Â | Â | Â | Â | Â | Â | Characteristic profiles of acylcarnitines in plasma and organic acids in urine |
HMG-CoA LDe | 1 | 1 | Â | Â | 1 | Â | Â | Characteristic profiles of acylcarnitines in plasma and organic acids in urine |
Other disorders | Â | Â | Â | Â | Â | Â | Â | Â |
Galactosaemiaa,e | 14 | 9 | 2 | 3 | 12 | Â | 2 | Enzyme deficiency and elevated galactose-1-phosphate in DBS and erythrocytes |
Others conditions | Â | Â | Â | Â | Â | Â | ||
Maternal 3-MCCDf | 6 | 6 | Â | Â | Â | 6 | Â | Characteristic acylcarnitine profile in plasma/DBS of mother and clearing of the pathological profile in the newborn |
Not confirmedd | 4 | 4 | Â | Â | Â | 3 | 1 | Â |
Total | 377 | 355 | 11 | 11 | 239 | 82 | 56 | Â |