ΔΙΕΡΕΥΝΟΥΜΕΝΑ ΝΟΣΗΜΑΤΑ
Κατηγορίες Μεταβολικών Διαταραχών- Νοσήματα
ΔΙΑΤΑΡΑΧΕΣ ΜΕΤΑΒΟΛΙΣΜΟΥ ΛΙΠΑΡΩΝ ΟΞΕΩΝ
ΑΣΘΕΝΕΙΑ |
| Medium Chain Acyl Coa Dehydrogenase Deficiency |
| Long Chain 3 Hydroxy Acyl CoA Dehydrogenase Deficiency |
| Trifunctional Protein Deficiency |
| Very Long Chain AcylCoA Dehydrogenase Deficiency |
| Short Chain AcylCoA Dehydrogenase Deficiency |
| Carnitine Palmitoyl Tranferase Deficiency Type I |
| Carnitine Palmitoyl Transferase Deficiency Type II |
| Glutaryl CoA Dehydrogenase Deficiency |
| 2,4 Dienoyl CoA Reductase Deficiency |
| Carnitine/Acyl Carnitine Translocase Deficiency |
| Carnitine Uptake Defect |
| Short Chain Hydroxy AcylCoA Dehydrogenase Deficiency |
| Medium Chain ketoacylCoA Thiolase Deficiency |
ΔΙΑΤΑΡΑΧΕΣ ΜΕΤΑΒΟΛΙΣΜΟΥ ΟΡΓΑΝΙΚΩΝ ΟΞΕΩΝ
| 3 Hydroxy 3 MethylGlutaryl CoA Lyase Deficiency |
| Glutaryl CoA Dehydrogenase Deficiency Type I |
| Isobutyryl CoA Dehydrogenase Deficiency |
| Isovaleryl CoA Dehydrogenase Deficiency |
| 2 Methylbutyryl CoA Dehydrogenase Deficiency |
| 3 Methylcrotonyl CoA Carboxylase Deficiency |
| 3 Nethylglutaconyl CoA Hydratase Deficiency |
| Methylmalonyl CoA mutase(0,+) Deficiency |
| Adenosyl Cobalamin Synthesis Defects (CblA,B) |
| Methylmalonic Acidemia and Homocystinuria(CblC,D) |
| Maternal Vitamin B12 Deficiency |
| Mitochondrial AcetoacetylCoA Thiolase Deficiency |
| Propionyl CoA Carboxylase Deficiency |
| Holocarboxylase Synthetase Deficiency |
| Malonyl CoA Decarboxylase Deficiency |
| 2 Methyl 3 Hydroxybutyryl CoA Dehydrogenase Deficiency |
| Ethylmalonic Encephalopathy |
| Formiminoglutamic Aciduria |
ΔΙΑΤΑΡΑΧΕΣ ΜΕΤΑΒΟΛΙΣΜΟΥ ΑΜΙΝΟΞΕΩΝ
| Biopterin Biosynthesis Defects |
| Biopterin Regeneration Defects |
| Hyperphenylalaninemia |
| Phenylketonuria |
| Argininemia |
| Arginino Succinic Aciduria |
| Carbamoylphosphate Synthetase Deficiency |
| Ornithine Transcarbamylase Deficiency |
| Citrullinemia Type I |
| Citrullinemia Type II |
| Homocystinuria |
| Methionine Adenosyltransferase (MAT I/III) Deficiency |
| Maple Syrup Urine Disease (MSUD) |
| MTHFR |
| Tyrosinemia Type I |
| Tyrosinemia Type II |
| Tyrosinemia Type III |
| Transient neonatal Tyrosinemia |
| Pyruvate Carboxylase Deficiency |
| Non Ketotic Hyperglycinemia |