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Τι (ποιος) είναι isovaleric acidemia - ορισμός
Propionic acidemia
ORGANIC ACIDEMIA THAT INVOLES A NONFUNCTIONAL PROPIONYL COA CARBOXYLASE AFFECTING CONVERSION OF AMINIO ACIDS AND FATS INTO SUGAR FOR ENERGY
Acidemia, propionic; Ketotic glycinemia; Propionic aciduria; Propionyl-CoA carboxylase deficiency
Propionic acidemia, also known as propionic aciduria or propionyl-CoA carboxylase deficiency (PCC deficiency), is a rare autosomal recessive metabolic disorder, classified as a branched-chain organic acidemia.
Glutaric aciduria type 1
GLUTARYL-COA DEHYDROGENASE (GCDH) DEFICIENCY (GDD) IS AN AUTOSOMAL RECESSIVE NEUROMETABOLIC DISORDER CLINICALLY CHARACTERIZED BY ENCEPHALOPATHIC CRISES RESULTING IN STRIATAL INJURY AND A SEVERE DYSTONIC DYSKINETIC MOVEMENT DISORDER
Glutaryl-CoA dehydrogenase deficiency; Glutaric acidemia I; Glutaric aciduria I; Glutaric acidemia type I; Glutaric aciduria; Glutaric acidemia type 1; Glutari aciduria; Glutaric acidemia
Glutaric acidemia type 1 (GA1) is an inherited disorder in which the body is unable to completely break down the amino acids lysine, hydroxylysine and tryptophan. Excessive levels of their intermediate breakdown products (glutaric acid, glutaryl-CoA, 3-hydroxyglutaric acid, glutaconic acid) can accumulate and cause damage to the brain (and also other organs), but particularly the basal ganglia, which are regions that help regulate movement.
Combined malonic and methylmalonic aciduria
HUMAN DISEASE
Draft:Combined malonic and methylmalonic aciduria; CMAMMA; Combined malonic and methylmalonic acedemia; Combined malonic and methylmalonic acidemia
Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic acid and methylmalonic acid. Some researchers have hypothesized that CMAMMA might be one of the most common forms of methylmalonic acidemia, and possibly one of the most common inborn errors of metabolism.
Βικιπαίδεια
Isovaleric acidemia
| name = Isovaleric acidemia
