Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: Prenatal and postnatal diagnosis in five unrelated families

Journal of Inherited Metabolic Disease

Volumn 25, Issue 5, 2002, Pages 399-410

  Kleijer, W J ^a   Garritsen, V H ^a   Linnebank, M ^b   Mooyer, P ^c   Huijmans, J G M ^a   Mustonen, A ^d   Simola, K O J ^d   Arslan Kirchner, M ^e   Battini, R ^f   Briones, P ^g   Cardo, E ^h   Mandel, H ⁱ   Tschiedel, E ^b   Wanders, R J A ^c   Koch, H G ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d TAMPERE UNIVERSITY HOSPITAL   (Finland)

^e LEIBNIZ UNIVERSITY HANNOVER   (Germany)

^f DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^g Institut de Bioquimica Clinica Barcelona   (Spain)

^h HOSPITAL SON LLÀTZER   (Spain)

ⁱ RAMBAM MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININOSUCCINATE LYASE; CARBON 14; CITRULLINE; PROTEIN;

ADULT; AMINOACIDURIA; AMNION FLUID ANALYSIS; ARTICLE; BIOCHEMISTRY; CHORION VILLUS; CLINICAL ARTICLE; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DISEASE SEVERITY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ETHNIC DIFFERENCE; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; INCUBATION TIME; MALE; MOLECULAR GENETICS; ONSET AGE; PERINATAL PERIOD; PRENATAL DIAGNOSIS; SKIN FIBROBLAST; SYMPTOMATOLOGY;

ADULT; ARGININOSUCCINATE LYASE; ARGININOSUCCINIC ACID; CHILD; CITRULLINE; CITRULLINEMIA; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; PRENATAL DIAGNOSIS;

EID: 0036746765     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1020108002877     Document Type: Article

References (20)

1. Barbosa P, Cialkowski M, O'Brien WE (1991) Analysis of naturally occuring and site-directed mutations in the argininosuccinate lyase gene. J Biol Chem 266: 5286-5290.
2. Brusilow SW, Horwich AL (2001) Urea cycle enzymes. In Scriver CR, Beaudet AL, Sly WS, Valle, D eds; Childs B, Kinzlev KW, Vogelstein B, assoc. eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn, vol. 2. New York: McGraw-Hill, pp. 1909-1964.
3. Cathelineau L, Pham Dinh D, Boue J, Saudubray JM, Farriaux JP, Kamoun P (1981) Improved method for the antenatal diagnosis of citrullinemia. Clin Chim Acta 116: 111-115.
4. Fleischer LD, Rassin DK, Desnick RJ, et al (1979) Argininosuccinic aciduria: prenatal studies in a family at risk. Am J Hum Genet 31: 439-445.
5. Gerrits GPJM, Gabreels FJM, Monnens LAH, et al (1993) Argininosuccinic aciduria: clinical and biochemical findings in three children with the late oneset form, with special emphasis on cerebrospinal fluid findings of amino acids and pyrimidines. Neuropediatrics 24: 15-18.
6. Glick NR, Snodgrass PJ, Schafer IA (1976) Neonatal argininosuccinic aciduria with normal brain and kidney but absent liver argininosuccinate lyase activity. Am J Hum Genet 28: 22-30.
7. Howell PL, Turner MA, Christodoulou J, et al (1998) Intragenic complementation at the argininosuccinate lyase locus: reconstruction of the active site. J Inherit Metab Dis 21(supplement 1): 72-85.
8. Kamoun P, Fensom AH, Shin YS, et al (1995) Prenatal diagnosis of the urea cycle diseases: a survey of the European cases. Am J Med Genet 55: 247-250.
9. Kleijer WJ, Blom W, Huijmans JGM, Mooyman MCT, Berger R, Niermeijer MF (1984) Prenatal diagnosis of citrullinemia: elevated levels of citrulline in the amniotic fluid in the three affected pregnancies. Prenat Diagn 4: 113-118.
10. Linnebank M, Homberger A, Rapp B, et al (2000) Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene. J Inherit Metab Dis 23: 308-312.
11. Mandell R, Packman S, Laframboise R, et al (1996) Use of ammotic fluid amino acids in prenatal testing for argininosuccinic aciduria and citrullinaemia. Prenat Diagn 16: 419-424.
12. McInnes RR, Shih V, Chilton S (1984) Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency. Proc Natl Acad Sci USA 81: 4480-4484.
13. Perry TL, Wirtz MLK, Kennaway NG, Hsia YE, Atinenza FC, Uemura HS (1980) Amino acid and enzyme studies of brain and other tissues in an infant with argininosuccinic aciduria. Clin Chim Acta 105: 257-267.
14. Pijpers L, Kleijer WJ, Reuss A, et al (1990) Transabdominal chorionic villus sampling in a multiple pregnancy at risk of argininosuccinic aciduria. Am J Med Genet 36: 449-450.
15. Sampaleanu LM, Vallee F, Thompson GD, Howell PL (2001) Three-dimensional structure of the argininosuccinate lyase frequently complementing allele Q286R. Biochemistry 40: 15570-15580.
16. Smidt-Jensen S, Christensen B, Lind A (1989) Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-term cultivation time. Prenat Diagn 9: 309-319.
17. Smith PK, Krohn RI, Hermanson GT, et al (1985) Measurement of protein using bicinchoninic acid. Anal Biochem 150: 76-85.
18. Tedesco TA, Mellman WJ (1967) Argininosuccinate synthetase activity and citrulline metabolism in cells cultured from a citrullinemic subject. Proc Natl Acad Sci USA 57: 829-834.
19. Walker DC, Christodoulou J, Craig HJ, et al (1997) Intragenic complementation at the human argininosuccinate lyase locus. Identification of the major complementing alleles. J Biol Chem 7: 6777-6783.
20. Yu B, Thompson GD, Yip P, Howell PL, Davidson, AR (2002) Mechanisms for intragenic complementation at the human argininosuccinate lyase locus. Biochemistry 40: 15581-15590.