3-phosphoglycerate dehydrogenase deficiency: A case report of a treatable cause of seizures

Turkish Journal of Pediatrics

Volumn 51, Issue 6, 2009, Pages 587-592

  Coşkun, Turgay ^a   Aydin, Halil Ibrahim ^a   Kiliç, Mustafa ^a   Dursun, Ali ^a   Haliloǧlu, Göknur ^a   Topaloǧlu, Haluk ^a   Karli Oǧuz, Kader ^a   De Koning, Tom J ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

3 phosphoglycerate dehydrogenase deficiency; Congenital microcephaly; Drug resistant seizures; L serine deficiency syndromes; L serine supplementation

Indexed keywords

CLONAZEPAM; ETIRACETAM; FOLINIC ACID; GLYCINE; PYRIDOXINE; SERINE;

ADD ON THERAPY; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CHILD; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; HUMAN; HYPSARRHYTHMIA; MALE; METABOLIC DISORDER; MICROCEPHALY; MUSCLE HYPERTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; SEIZURE; STRABISMUS; SUPPLEMENTATION;

DEFICIENCY DISEASES; DIETARY SUPPLEMENTS; FOLLOW-UP STUDIES; GLYCINE; HUMANS; INFANT; MALE; PHOSPHOGLYCERATE DEHYDROGENASE; SEIZURES; SERINE;

EID: 76649102412     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (13)

1. de Koning TJ, Snell K, Duran M, Berger R, Poll-The B-T, Surtees R. L-serine in disease and development. Biochem J 2003; 371: 653-661.
2. Hart CE, Race V, Achouri Y, et al. Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. Am J Hum Genet 2007; 80: 931-937.
3. de Koning TJ, Klomp LW. Serine-deficiency syndromes. Curr Opin Neurol 2004; 17: 197-204.
4. Jaeken J, Detheux M, Maldergem V, Foulon M, Carchon H, van Schaftingen E. 3-phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch Dis Child 1996; 74: 542-545.
5. de Koning TJ. Treatment with amino acids in serine deficiency disorders. J Inherit Metab Dis 2006; 29: 347-351.
6. Jaeken J, Detheux M, Fryns JP, et al. Phosphoserine phosphatase deficiency in a patient with Williams syndrome. J Med Genet 1997; 34: 594-596.
7. Catsman-Berrevoets CE, de Klerk JB, Huijmans JG, Duran M. Inborn error of serine biosynthesis, a new phenotype [abstract]. Eur J Paediat Neurol 1997; 1: A43.
8. Tabatabaie L, Klomp LW, Rubio-Gozalbo ME, et al. Expanding the clinical spectrum of 3-phosphoglycerate dehydrogenase deficiency. (Submitted 2009).
9. Fuchs SA, Dorland L, de Sain-van der Velden MG, et al. D-serine in the developing human central nervous system. Ann Neurol 2006; 60: 476-480.
10. de Koning TJ, Jaeken J, Pineda M, Van Maldergrem L, Poll-The BT, van der Knaap MS. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency. Neuropediatrics 2000; 31: 287-292.
11. Klomp LW, de Koning TJ, Malingre HE, et al. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - a neurometabolic disorder associated with reduced L-serine biosynthesis. Am J Hum Genet 2000; 67: 1389-1399.
12. Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW. Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. Hum Mutat 2009; 30: 749-756.
13. de Koning TJ, Klomp WJ, van Oppen AC, et al. Prenatal and early postnatal treatment in 3-phosphoglycerate dehydrogenase deficiency. Lancet 2004; 364: 2221-2222.