Continuing education in neurometabolic disorders - Serine deficiency disorders

Neuropediatrics

Volumn 30, Issue 1, 1999, Pages 1-4

  De Koning, T J ^a,b   Poll The, B T ^a   Jaeken, J ^c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b Wolfson Centre   (United Kingdom)

^c UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

3 phosphoglycerate dehydrogenase; 3 phosphoserine phosphatase; Serine biosynthesis; Serine deficiency

Indexed keywords

GLYCINE; PHOSPHOSERINE; SERINE;

AMINO ACID ANALYSIS; AMINO ACID DEFICIENCY; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CONTINUING EDUCATION; DIAGNOSTIC PROCEDURE; FEMALE; HUMAN; HYPOPHOSPHATASIA; INBORN ERROR OF METABOLISM; MALE; MICROCEPHALY; NEUROLOGIC DISEASE; POLYNEUROPATHY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; REVIEW; SEIZURE; SUBSTITUTION THERAPY;

EID: 0032904554     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2007-973447     Document Type: Review

References (14)

1. Catsman-Berrevoets, C. E., de Klerk, J. B. C., Huymans, J. G. M., Lindhout, D., Duran, M. Inborn error of serine biosynthesis, a new phenotype (abstract). Eur. J. Pediatr. Neurol. 1, A43 (1997).
2. Hamosh, A., Johnston, M. V., Valle, D. Non-Ketotic Hyperglycinemia. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (Eds.). The Metabolic and Molecular Basis of Inherited Disease. New-York, McGraw-Hill, 1015-1368 (1995).
3. Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., Van Schaftingen, E. 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch. Dis. Child 74, 542-545 (1996).
4. Jaeken, J., Detheux, M., Fryns, J. P., Collet, J. F., Alliet, P., and Van Schaftingeti, E. Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J. Med. Genet. 34, 594-596 (1997).
5. de Koning, T. J., Duran, M., Dorland, L., Gooskens, R., Van Schaftingen, E., Jacken, J., et al. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency. Ann. Neurol. 44, 261-265 (1998).
6. de Koning, T. J., Jaeken, J., Van Maldergem, L., Poll-The, B. T., van der Knaap, M. S. 3-Phosphoglycerate dehydrogenase deficiency: MRI findings and response to treatment (abstract). J. Inher. Metab. Dis. 21 (Suppl 2), 55 (1998).
7. de Koning, T. J., Duran, M., Dorland, L., Jacobs, C., Wevers, R., Berger, R., et al. Low cerebrospinal fluid 5-methyltetrahydrofolate is not asscociated with low neurotransmitter amines and GABA in a patient with 3-phosphoglycerate dehydrogenase deficiency. Manuscript in preparation.
8. Lee, C. C., Surtees, R., Duchen, L. W. Distal motor axonopathy and central nervous system vacuolation caused by cycloleucine, and inhibitor of methionine adenosyltransferase. Brain 115, 935-955 (1992).
9. Pineda, M., Vilaseca, M. A., Artuch, R., Santos, S., Carcia Gonzalez, M. M., Sau, I., et al. Serine deficiency in West syndrome (abstract). J. Inher. Metab. Dis. 21 (Suppl 2), 55 (1998).
10. Savoca, R., Ziegler, U., Sonderegger, P. Effects of L-serine on neurons in vitro. J. Neurosci. Methods 61, 159-107 (1995).
11. Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. Amino Acids. In: Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. (Eds.). The Metabolic and Molecular Basis of Inherited Disease. New-York, McGraw-Hill 1015-1368 (1995).
12. Snell, K. Enzymes of serine metabolism in normal, developing and neoplastic rat tissues. Adv. Enzym. Regul. 22, 325-400 (1983).
13. Sparkes, R. S., Mohandas, T., Sparkes, M. C. The human phosphoserine phosphatase gene (PSP) is mapped to chromosome 7 by somatic cell genetic analysis. Cytogenet. Cell Genet. 35, 70-71 (1983).
14. Surtees, R. Demyelination and inborn errors of the single carbon transfer pathway. Eur. J. Pediatr. 157 (Suppl 2), S118-S121 (1998).