Aciduria

Some articles on aciduria:

3-Methylglutaconic Aciduria - Classification
... as/Description Genetics Type I 250950 AUH Chr.9 3-Methylglutaconic aciduria type I, 3-Methylglutaconic acidemia or 3-Methylglutaconyl-CoA Hydratase Deficiency Mutations in the AUH gene cause 3-me ... Type II 302060 TAZ Xq28 Barth syndrome (BTHS), 3-Methylglutaconic aciduria type II or Cardiomyopathy-neutropenia syndrome Mutations in the TAZ gene cause 3-methylgl ... Type III 258501 OPA3 19q13.2-q13.3 3-Methylglutaconic aciduria type III or Costeff syndrome Mutations in the OPA3 gene cause 3-methylglutaconic aciduria type III ...
Argininosuccinic Aciduria
... Argininosuccinic aciduria, also called argininosuccinic acidemia, is an inherited disorder that causes the accumulation of argininosuccinic acid (also known as "ASA") in ... Argininosuccinic aciduria may become evident in the first few days of life because of high blood ammonia, or later in life presenting with "sparse" or "brittle" hair ... An infant with argininosuccinic aciduria may seem lethargic or be unwilling to eat, have poorly-controlled breathing rate or body temperature, experience seizures or unusual body movements, or go into a coma ...
Tyrosinemia Type III
... lyase deficiency 3-Methylglutaconic aciduria 1 Tryptophan Hypertryptophanemia G G→pyruvate→citrate Glycine Sarcosinemia D-Glyceric acidemia Glutathione synthetase deficiency ...
Argininosuccinic Aciduria - Genetics
... Mutations in the ASL gene cause argininosuccinic aciduria ... Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders ... In argininosuccinic aciduria, the enzyme arginino succinase, that is involved in the conversion of arginino succinate to arginine within the urea cycle is damaged or missing ...
Argininosuccinate Lyase - Mutations and ASL Deficiencies: Argininosuccinic Aciduria
... Mutations in the human ASL gene causes argininosuccinic aciduria, a rare autosomal recessive disorder, and results in deficiencies of the urea cycle ... neurotransmitters such as glutamate, which can explain the developmental delay in argininosuccinic aciduria patients ... One mutation in patients with argininosuccinic aciduria occurs when glutamine 286 is mutated to arginine ...