Table 1.
Specific diagnosis of IEM listed by their frequency.
| IEM type | Number of patients | Percentage |
|---|---|---|
| PKU | 108 | 21.6 |
| Porphyria cutanea tarda | 43 | 8.6 |
| Porphyria – acute intermittent | 34 | 6.8 |
| Other mitochondrial diseases | 33 | 6.6 |
| Fabry | 32 | 6.4 |
| Gaucher | 25 | 5 |
| GSD V | 24 | 4.8 |
| MELAS | 20 | 4 |
| Homocystinuria | 12 | 2.4 |
| Pompe (GSD II) | 8 | 1.6 |
| Hereditary fructose intolerance | 8 | 1.6 |
| Hereditary coproporphyria | 8 | 1.6 |
| Alpha-mannosidosis | 7 | 1.4 |
| Morquio A (MPS IVA) | 7 | 1.4 |
| GSD Ia | 7 | 1.4 |
| Kearn Sayre disease | 7 | 1.4 |
| OTC | 6 | 1.2 |
| GSD III | 6 | 1.2 |
| Variegate porphyria | 6 | 1.2 |
| Carnitine primary deficiency | 5 | 1 |
| MADD | 5 | 1 |
| Galactosemia | 5 | 1 |
| Niemann-Pick A-B | 4 | 0.8 |
| Niemann-Pick C | 4 | 0.8 |
| MCAD | 4 | 0.8 |
| 3-MCCD-A | 4 | 0.8 |
| Cystinuria | 4 | 0.8 |
| Glutaric acidemia type I | 4 | 0.8 |
| Alkaptonuria | 3 | 0.6 |
| Morquio B | 3 | 0.6 |
| Hunter (MPS II) | 3 | 0.6 |
| CPT-2 | 3 | 0.6 |
| Tyrosinemia type I | 3 | 0.6 |
| Methylmalonic acidemia | 3 | 0.6 |
| Other porphyria | 3 | 0.6 |
| Aspartylglycosaminuria | 2 | 0.4 |
| Hurler/Scheie (MPS IH/MPS IS) | 2 | 0.4 |
| Sanfilippo A (MPS IIIA) | 2 | 0.4 |
| VLCAD | 2 | 0.4 |
| 3-MCCD-B | 2 | 0.4 |
| GSD Ib | 2 | 0.4 |
| GSD Ixa | 2 | 0.4 |
| Propionic acidemia | 2 | 0.4 |
| Glycosylation deficiency | 2 | 0.4 |
| MAT I/III deficiency | 2 | 0.4 |
| GSD VII | 2 | 0.4 |
| Sanfilippo B (MPS IIIB) | 1 | 0.2 |
| Sanfilippo C | 1 | 0.2 |
| Sly (MPS VII) | 1 | 0.2 |
| Cystinosis | 1 | 0.2 |
| LCHAD/TFP | 1 | 0.2 |
| SSADHD | 1 | 0.2 |
| Dihydrolipoamide dehydrogenase deficiency (E3) | 1 | 0.2 |
| Citrullinemia type I | 1 | 0.2 |
| Methylmalonic acidemia combined with homocystinuria (cblC) | 1 | 0.2 |
| Methylmalonic acidemia combined with homocystinuria (cblD) | 1 | 0.2 |
| 3-HMG | 1 | 0.2 |
| GLUT-1 deficiency | 1 | 0.2 |
| GSD type unknown | 1 | 0.2 |
| GSD IV | 1 | 0.2 |
| MTHFR | 1 | 0.2 |
| Lysinuric protein intolerance | 1 | 0.2 |
| Mucolipidosis type III | 1 | 0.2 |
PKU = phenylketonuria; GSD = glycogen storage disease; MELAS = mitochondrial myopathy, encephalitis, lactic acidosis and stroke-like episodes; MPS = mucopolysaccharidosis; OTC = ornithine transcarbamylase deficiency; MADD = multiple acyl-CoA-dehydrogenase deficiency; MCAD = medium-chain acyl-CoA dehydrogenase deficiency; 3-MCCD-A = 3-methylcrotonyl-CoA carboxylase A subunit deficiency; CPT-2 = carnitine palmitoyltransferase 2 deficiency; VLCAD = very-long-chain acyl-CoA dehydrogenase deficiency; 3-MCCD-B = 3-methylcrotonyl-CoA carboxylase B subunit deficiency; MATI/III = methionine adenosyl transferase I/III; LCHAD/TFP = long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and trifunctional protein deficiency; SSADHD = succinic semialdehyde dehydrogenase deficiency;3-HMG = 3-hydroxy-3-methylglutaric aciduria; GLUT-1 = glucose transporter-1; MTHFR = methylenetetrahydrofolate reductase deficiency.