Adenylosuccinase deficiency: Clinical and biochemical findings in 5 Czech patients

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 343-344

  Sebesta I ^a   Krijt, J ^a   Kmoch, S ^a   Hartmannova H ^a   Wojda, M ^a   Zeman, J ^a  

^a CHARLES UNIVERSITY   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

ADENYLOSUCCINATE LYASE; PURINE; PURINE DERIVATIVE;

BLOOD LEVEL; CASE REPORT; CEREBROSPINAL FLUID LEVEL; CHILD; CLINICAL FEATURE; CONFERENCE PAPER; CONTROLLED STUDY; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; ENZYME DEFICIENCY; EPILEPSY; FEMALE; HUMAN; MALE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; PURINE METABOLISM; URINALYSIS; URINE LEVEL;

ADENYLOSUCCINATE LYASE; CHILD, PRESCHOOL; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CZECH REPUBLIC; ERYTHROCYTES; FEMALE; HUMANS; INFANT; LYMPHOCYTES; MALE; MENTAL RETARDATION; NERVOUS SYSTEM DISEASES; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 0030878537     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005361408031     Document Type: Conference Paper

References (7)

1. de Bree PK, Wadman SK, Duran M, Fabery de Jonge H (1986) Diagnosis of inherited adenylosuccinase by thin-layer chromatography of urinary imidazoles and by automated cation exchange column chromatography of purines. Clin Chim Acta 156: 279.
2. Jaeken J, Van den Berghe G (1984) An infantile autistic syndrome characterized by the presence of succinyl purines in body fluids. Lancet 2: 1058-1061.
3. Jaeken J, Wadman SK, Duran M, et al (1988) Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Paediatr 148: 126-131.
4. Salerno C, Crifo C, Giardini O (1995) Adenylosuccinase deficiency: a patient with impaired erythrocyte activity and anomalous response to intravenous fructose. J Inher Metab Dis 18: 602 - 608.
5. Šebesta I, Krijt J, Shobowale MS, Simmonds HA (1995) Screening test for adenylosuccinase deficiency. Screening 4: 117-124.
6. Simmonds HA, Duley JA, Davies PM (1991) Analysis of purines and pyrimidines in blood, urine and other physiological fluids. In Hommes F, ed. Techniques in Diagnostic Human Biochemical Genetics: a Laboratory Manual. New York: Wiley-Liss, 397-425.
7. Valik D, Miner PT, Jones JD (1996) Clinical and biochemical findings in a first North American case of adenylosuccinase deficiency. J Inher Metab Dis (supplement 1): A22.