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Extra resources for Acetaldehyde-Related Pathology: Bridging the Trans-Disciplinary Divide (Novartis Foundation Symposium 285)
The results of deficiency of various ALDH enzymes can be seen when there is a genetic polymorphism that decreases or eliminates an enzyme. The most well known is the deficiency of ALDH2 among some Asian populations. However, there are several other, less widespread polymorphisms as well. Thus deficiency of ALDH4A1 (ALDH4) leads to hyperprolinaemia, ALDH6A1 deficiency is responsible for methylmalonic acidaemia, deficiency of ALDH7A1 is responsible for pyridoxine-dependent seizures (Meniere disease), and hyperammonaemia and resultant mental retardation is caused by a deficiency of ALDH18A1.
Acta Chem Scand 12:1279–1285 Baumgartner M, Rabier D, Nassogne M-C et al 2005 Delta 1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline. Eur J Pediatr 164:31–36 Becker TW, Krieger G, Witte I 1996 DNA single and double strand breaks induced by aliphatic and aromatic aldehydes in combination with copper (II). Free Radic Res 24:325–332 ACETALDEHYDE REMOVAL 35 Berkovitz BKB, Maden M, McCaffery P, Barrett AW 2001 The distribution of retinaldehyde dehydrogenase-2 in rat and human orodental tissues.
Microsomal, parotid gland (Lee et al 1991, Sun et al 2005) (Hsu et al 1997, Hsu & Chang 1996, Yoshida et al 1998) (Goodwin et al 1999, Vasiliou et al 2004) ALDH3B1 RALDH2, human ALDH11 ALDH7 ALDH3B2 ALDH8 ALDH6A1 MMSDH Malonate- and, methylmalonatesemialdehyde CoA dependent. Mitochondria; methylmalonic acidemia ALDH16A1 ALDH18A1 P5CS Glutamate (enzyme functions as reductase in synthesis of proline and arginine) Mitochondrial matrix. Hyperammonemia, mental retardation a ACETALDEHYDE REMOVAL TABLE 2 ALDH enzymes for which acetaldehyde has not been reported to be a substrate, or its Km not determined Vasiliou & Nebert 2005 (Baumgartner et al 2005, Hu et al 1999, 1992) Not all references are included.