Διερευνούμενα Νοσήματα

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