Disorders of the carbohidrate metabolism
Fatty Acids Metabolic Disorder / Ketonic Bodies
- CARNITINE TRANSPORT DEFICIT pdf, 156 KB
- MEDIUM CHAIN FATTY ACID OXIDATION DISORDERS (médium chain acyl CoA dehydrogenase deficit (MCAD), HMG CoA synthasea deficit, carnithine-palmytoil transpherase 1 deficit (CPT1)) pdf, 168 KB
- LONG CHAIN FATTY ACID OXIDATION DISORDERS (VLCAD, LCHAD, CPT II, Carnithine translocase, acil CoA dehydrogenase multiple deficit(MADD)) pdf, 164 KB
- HMG CoA LIASE DEFICIT pdf, 156 KB
- DEFICIT OF THE METABOLISM OF KETONIC BODIES (SCOT – succinil CoA oxoacil CoA transferase deficit; 3-oxotyolase defict- a.k.a. ?-Ketotiolase deficit, acetoacetil-CoA tiolase mitochondrial or T2 deficit) pdf, 160 KB
Amino Acid/Protein Disorders:
– Organic Acidaemias
- GLUTARIC ACIDAEMIA TYPE 1 (Glutaril CoA deyhidrogenade deficit) pdf, 164 KB
- ISOVALERIC ACIDAEMIA pdf, 164 KB
- PROPIONIC ACIDAEMIA pdf, 168 KB
- METHYLMALONIC ACIDAEMIA pdf, 172 KB
- MAPLE SYRUP DISEASE (MSUD, Maple Syrup Disease pdf, 160 KB
– Hyperammonemia
- HYPERAMMONEMIA HHH SYNDROME (hyperornithynemia, hyperammonemia, homocytrullinuria.?IPL – Intolerant to protein Lysinuria) pdf, 164 KB
- HYPERAMMONEMIA (carbamylphosphate synthetasea déficit (CPS) and ornythine transcarbamilase déficit (OTC)) pdf, 168 KB
- HYPERAMMONEMIA (Cytrullinemia (argininosuccinate synthetase deficit, CIT) and Argininosuccinic aciduria) pdf, 164 KB
Information about disableness
Basque Parliament
- Motion about the creation of a reference unit in Cruces for patients with inborn disorders pdf, 140 KB
- Amendment PP pdf, 84 KB
- Amendment PNV-EA-EB pdf, 100 KB
