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 |