Long-term follow up of a new case of hawkinsinuria

European Journal of Pediatrics

Volumn 158, Issue 7, 1999, Pages 578-582

  Lehnert, W ^a   Stogmann W ^b   Engelke, U ^c   Wevers, R A ^c   Van Den Berg, G B ^d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b G v Preyer'sches Kinderspital   (Austria)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d Observation Centre De Hondsberg   (Netherlands)

Author keywords

4 hydroxycyclohexylacetic acid; Chronic metabolic acidosis; Growth retardation; Hawkinsinuria; Tyrosyluria

Indexed keywords

4 HYDROXYPHENYLPYRUVATE DIOXYGENASE; TYROSINE;

AMINO ACID METABOLISM; ARTICLE; CASE REPORT; CHILD; DISEASE COURSE; ENZYME DEFECT; FOLLOW UP; HUMAN; INBORN ERROR OF METABOLISM; MALE; METABOLIC ALKALOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

4-HYDROXYPHENYLPYRUVATE DIOXYGENASE; ACIDOSIS, RENAL TUBULAR; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACIDS, SULFUR; CYCLOHEXENES; DIAGNOSIS, DIFFERENTIAL; FOLLOW-UP STUDIES; FRUCTOSE INTOLERANCE; GROWTH DISORDERS; HUMANS; INFANT; LIVER DISEASES; MALE; TYROSINE;

EID: 0033062677     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004310051151     Document Type: Article

References (10)

1. 1. Borden M, Holm J, Leslie J, Sweetman L, Nyhan WL, Fleisher L, Nadler H, Lewis D, Scott CR (1992) Hawkinsinuria in two families. Am J Med Genet 44:52-56
2. 2. Bremer HJ, Duran M, Kamerling JP, Przyrembel, Wadman SK (1981) Disturbances of amino acid metabolism: clinical chemistry and diagnosis. Urban & Schwarzenberg, Baltimore, E 2.4.7, p. 438
3. 3. Danks DM, Tippett P, Rogers J (1975) A new form of prolonged tyrosinemia presenting with severe metabolic acidosis. Acta Paediatr Scand 64:209-214
4. 4. Hocart CH, Halpern B, Hick LA, Wong CO, Hammond JW, Wilcken B (1983) Hawkinsinuria - identification of quinolacetic acid and pyroglutamic acid during an acidotic phase. J Chromatogr 275:237-243
5. 5. Lehnert W (1994) Long-term results of selective screening for inborn errors of metabolism. Eur J Pediatr 153:S9-S13
6. 6. Niederwieser A, Marasovic A, Tippett P, Danks DM (1977) A new sulfur amino acid, named hawkinsin, identified in a baby with transient tyrosinemia and her mother. Clin Chim Acta 76:345-356
7. 7. Niederwieser A, Wadman SK, Danks DM (1978a) Excretion of cis-and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase. Clin Chim Acta 90:195-200
8. 8. Niederwieser A, Matasovic A, Neuheiser F, Wetzel E (1978b) New tyrosine metabolites in humans: hawkinsin and cis-and trans-4-hydroxycyclohexylacetic acids. J Chromatogr 146:207-212
9. 9. Spackman DH, Stein WH, Moore S (1958) Automatic recording apparatus for use in the chromatography of amino acids. Anal Chem 30:1190-1206
10. 10. Wilcken B, Hammond JW, Howard N, Bohane T, Hocart C, Halpern B (1981) Hawkinsinuria. A dominantly inherited defect of tyrosine metabolism with severe effects in infancy. N Engl J Med 305:865-869