Abstract
The organic acidurias may be broadly defined as those inborn errors of metabolism in which the specific inherited metabolic lesion causes an abnormal excretion of a non-amino carboxylic acid. The characteristic excretion product may contain other functional groups (e.g., oxo- or hydroxy-) and may be either aliphatic or aromatic. Taken in this broad sense, the organic acidurias include disorders for which other biochemical markers, such as an abnormal amino aciduria, may also be available or in which the abnormal organic aciduria may not be a major determinant of the clinical presentation. In some cases, the clinical picture is determined by a property of a principle acidic metabolite that is unrelated to the generation of free hydrogen ions, for example the formation of calcium oxalate in the primary hyperoxalurias. The diseases that can be regarded as organic acidurias on this rather broad basis are listed in Table 1.
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References
Barnes ND, Hull D, Balgobin L, Gompertz D (1970) Biotinresponsive propionic acidaemia. Lancet 11:244–245
Borg L, Lindstedt S, Steen G, Hjalmarson O (1972) Aliphatic C6-Q14 dicarboxylic acids in urine from an infant with fatal congenital lactic acidosis. Clin Chim Acta 41:363–366
Bjorkman L, McLean C, Steen G (1976) Organic acids in urine from human newborns. Clin Chem 22:49–52
Brandt NJ, Brandt S, Rasmussen K, Schønheyder F (1974) Hyperglyceric acidaemia with hyperglycinaemia: A new inborn error of metabolism. Br Med J 4:344
Brandt NJ, Brandt S, Christensen E, Gregersen N, Rasmussen K (1978) Glutaric aciduria in progressive choreoathetosis. Clin Genet 13:77–80
Brunette MG, Delvin E, Hazel B, Scriver CR (1972) Thiamine responsive lactic acidosis in a patient with deficient low-Km pyruvate carboxylase activity in liver. Paediatrics 50:702–711
Chalmers RA, Lawson AM (1976) 2-Hydroxyglutaric aciduria: Gas chromatographic and mass spectrometric studies of organic acids in a patient. Proceedings of 2nd European Congress on Clinical Chemistry, Czechoslovakian Medical Society, Society of Clinical Chemistry, Prague
Chalmers BA, Healy MJR, Lawson AM, Watts RWE (1976a) Urinary organic acids in man. II. Effects of individual variation and diet on the urinary excretion of acidic metabolites. Clin Chem 22:1288–1291
Chalmers RA, Healy MJR, Lawson AM, Hart JT, Watts RWE (1976b) Urinary organic acids in man. III. Quantitative ranges and patterns of excretion in a normal population. Clin Chem 22:1291–1298
Chalmers RA, Watts RWE, Lawson AM (1977) A comprehensive screening method for detecting organic acidurias and other metabolic diseases in acutely sick infants and children. Ann Clin Biochem 14:149–156
Daum RS, Lamm PH, Mamer OA, Scriver CR (1971) A “new” disorder of isoleucine catabolism. Lancet 11:1289–1290
Daum RS, Scriver CR, Mamer OA, Delvin E, Lamm PH, Goldman H (1973) An inherited disorder of isoleucine catabolism causing accumulation of a-methylacetoacetate and α-methyl β-hydroxybutyrate and intermittent metabolic acidosis. Pediatr Res 7:149–160
Duran M, Tielens AGM, Wadman SK, Stigter JCM, Kleijer WJ (1978) Effects of thiamine in a patient with a variant form of branched-chain ketoaciduria. Acta Paediatr Scand 67:367–372
Efron ML (1965) Aminoaciduria. N Engl J Med 272:1058–1067, 1107–1113
Eldjarn L, Stokke O, Jellum E (1972) Pyroglutamic aciduria. A new inborn error of metabolism possibly in the “γ-glutamyl cycle” proposed for amino acid transport. In: Stern J, Toothill C (eds) Organic Acidurias. Churchill, Edingburgh, pp. 113–119
Faul KF, Bolton PD, Halpern B, Hammond J, Danks DM (1976) The urinary organic acid profile associated with 3-hydroxy-3-methylglutaric aciduria. Clin Chim Acta 73:553–559
Finnie MDA, Cottrall K, Seakins JWT, Snedden W (1976) Massive excretion of 2-oxoglutaric acid and 3-hydroxyisovaleric acid in a patient with a deficiency of 3-methylcrotonyl-CoA carboxylase. Clin Chim Acta 73:513–519
Gompertz D, Draffan GH, Watts JL, Hull D (1971) Biotinresponsive β-methylcrotonylglycinuria. Lancet 11:22–24
Goodman SI, Markey SP, Moe PG, Miles BS, Teng CC (1975) Glutaric aciduria; “New” disorder of amino acid metabolism. Bioch Med 12:12–21
Goodman SI, Norenberg MD, Shikes RH, Breslich DJ, Moe PG (1977) Glutaric aciduria: Biochemical and morphological considerations. J Pediatr 90:746–750
Hagenfeldt L, Larsson A, Zetterstrom R (1974) Pyroglutamic aciduria. Acta Paediatr Scand 63:1–8
Hillman RE, Keating JP (1974) Beta-ketothiolase deficiency as a cause of the “ketotic hyperglycinemia syndrome”. Pediatrics 53:221–225
Hooft C, Timmermans J, Snoeck J, Antener I, Oyeart W, van Derhende CH (1965) Methionine malabsorption syndrome. Ann Paediatrics 205:73–104
Hsia YE, Lilljeqvist A-C, Rosenberg LE (1970) Vitamin B12-dependent methylmalonic aciduria: Amino acid toxicity, long chain ketonuria and protective effect of vitamin B12. Pediatrics 46:497–507
Kang ES, Snodgrass PJ, Gerald PS (1972) Methylmalonyl coenzyme A racemase defect: Another cause of methylmalonic aciduria. Pediatr Res 6:875–879
Kennaway NG, Buist NRM (1971) Metabolic studies in a patient with hepatic cytosol tyrosine aminotransferase deficiency. Pediatr Res 5:287–297
Kolvraa S, Rasmussen K, Brandt NJ (1976) D-glyceric acidemia: Biochemical studies of a new syndrome. Pediatr Res 10:825–830
Lawson AM, Chalmers RA, Watts RWE (1976) Urinary organic acids in man. I. Normal patterns. Clin Chem 22:1283–1287
Levy HL, Mudd SH, Schulman JD, Dreyfus PM, Abeles RH (1970) A derangement in B12 metabolism associated with homocystinaemia, cystathioninaemia, hypomethioninaemia and methylmalonic aciduria. Am J Med 48:390–397
Levy HL, Erickson AM, Lott IT, Kurtz DJ (1973) Isovaleric acidemia: Results of family study and dietary treatment. Pediatrics 52:83–94
Lindstedt S, Norberg K, Steen G, Wahl E (1976) Structure of some aliphatic dicarboxylic acids found in the urine of an infant with congenital lactic acidosis. Clin Chem 22:1330–1338
Lonsdale D, Faulkner WR, Price JM, Smeby RR (1969) Intermittent cerebellar ataxia associated with hyperpyruvic acidaemia, hyperphenyl-alaninaemia and hyperalaninuria. Pediatrics 43:1025–1034
McKusick VA (1971) Mendelian inheritance in man: Catalogues of autosomal dominant, autosomal recessive, and x-linked phenotypes. Johns Hopkins, Baltimore
Oace SM, Chen SC-H (1975) Comparison of automated and manual methods of estimation of methylmalonic acid. An Biochem 67: 192–197
Palmer T, Oberholzer VG (1977) Diagnosis of urea cycle disorders. Ann clin Biochem 14:136–138
Pryzrembele H, Bachmann D, Lombeck I, Becker K, Wendel U, Wadman SK, Bremer HJ (1975) Alpha ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical features. Clin Chim Acta 58:257–269
Pryzrembel H, Wendel U, Becker K, Bremer HJ, Bruinvis L, Ketting D, Wadman SK (1976) Glutaric aciduria Type II: Report on a previously undescribed metabolic disorder. Clin Chim Acta 66:227–239
Rosenberg LE (1978) Disorders of propionate, methylmalonate and cobalamin metabolism. In: Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited diseaser 4th edn. McGraw Hill, New York
Schärer K (1972) Congenital lactic acidosis. In: Stern J, Toothill C (eds) Organic acidurias. Churchill, Edingburgh London, pp 46–51
Scriver CR, Rosenberg LE (1973) Amino acid metabolism and its discorders. In: Schaffer AI (ed) Major problems in pediatrics, Vol 10. Saunders, Philadelphia, p 443
Seakins JWT, Haktan M, Andrews BC, Ersser RS (1972) Screening for inherited metabolic disorders: A new look at metabolic screening tests. Ann Clin Biochem 9:103–108
Sidbury JB, Smith EK, Harlan W (1967) An inborn error of short-chain fatty acid metabolism. The odour-of-sweaty-feet syndrome. J Paedriatr 70:8–15
Smith AJ, Strang LB (1958) An inborn error of metabolism with the urinary excretion of α-hydroxybutyric acid and phenylpyruvic acid. Arch Dis Child 33:109–113
Snyderman SE (1975) Maple syrup urine disease. In: Raine DN (ed) The treatment of inherited metabolic disease. Medical Technical Publishing, Lancaster
Stokke O, Goodman SI, Thompson JA, Miles BC (1975) Glutaric aciduria; presence of glutaconic and β-hydroxyglutaric acids in urine. Biochem Med 12:386–391
Strömme JH, Borud O, Moe PJ (1976) Fatal lactic acidosis in a newborn attributable to a congenital defect of pyruvate dehydrogenase. Pediatr Res 10:60–66
Sweetman L (1974) Liquid partition chromatography and gas chromatography — mass spectrometry in identification of acid metabolites of amino acids. In: Nyhan WL (ed) Heritable disorders of amino acid metabolism: Patterns of clinical expression and genetic variation. Wiley, New York, pp 730–751
Tilden JT, Cornblath M (1972) Succinyl-CoA: 3-ketoacid CoA-transferase deficiency. J Clin Invest 51:493–498
Van Biervliet JPGM, Bruinvis L, van der Heiden G, Ketting D, Wadman SK, Willemse JL, Monnens LAH (1977) Report of a patient with severe, chronic lactic acidaemic and pyruvate carbocylase deficiency. Dev Med Child Neurol 19:392–401
Wadman SK, Duran M, Ketting D, Bruinvis L, de Bree PK, Kamerling JP, Gerwig GJ, Vliegenthart JFG, Przyrembel H, Becker K, Bremer HJ (1976) D-glyceric acidaemia in a patient with chronic metabolic acidosis. Clin Chim Acta 71:477–484
Watts RWE (1978) Progress in screening for inborn errors of metabolism. Experientia 34:143–152
Watts RWE, Chalmers RA, Lawson AM (1975) Abnormal organic acidurias in mentally retarded patients. Lancet 1:368–370
Wendell U, Przyrembel H, Bremer HJ (1975) Alpha-ketoadipic aciduria: Degradation studies with fibroblasts. Clin Chim Acta 58:271–276
Westall RG, Cahill R, Sylvester PE (1970) Hyperglucaric aciduria: A new inborn error of carbohydrate metabolism found in a mentally retarded patient. J Ment Defic Res 14:347–351
Yoshida T, Tada K, Honda Y, Arakawa T (1971) Urocanic aciduria: A defect in the urocanase activity in the liver of a mentally retarded. Tohoku J Exp Med 104:305–312
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Watts, R.W.E. (1980). Neonatal Screening for Organic Acidurias. In: Bickel, H., Guthrie, R., Hammersen, G. (eds) Neonatal Screening for Inborn Errors of Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-67488-4_10
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DOI: https://doi.org/10.1007/978-3-642-67488-4_10
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