Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: Outcome of treatment with amino acids

Journal of Inherited Metabolic Disease

Volumn 25, Issue 2, 2002, Pages 119-125

  De Koning, T J ^a   Duran, M ^a   Maldergem, L Van ^b   Pineda, M ^c   Dorland, L ^a   Gooskens, R ^a   Jaeken, J ^d   Poll The, B T ^a,e  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^c Section of Gastroenterology   (Spain)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GLYCINE; OXIDOREDUCTASE; PHOSPHOGLYCERATE DEHYDROGENASE; SERINE; UNCLASSIFIED DRUG; VIGABATRIN;

3 PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY; AMINO ACID SYNTHESIS; ARTICLE; CEREBROSPINAL FLUID ANALYSIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DOSE RESPONSE; DRUG TOLERANCE; EARLY DIAGNOSIS; ENZYME DEFICIENCY; FEMALE; FOLLOW UP; HUMAN; INBORN ERROR OF METABOLISM; INFANT; INTRACTABLE EPILEPSY; LUMBAR PUNCTURE; MALE; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; PSYCHOMOTOR DEVELOPMENT; SIDE EFFECT; TREATMENT OUTCOME; BLOOD; CASE REPORT; CEREBROSPINAL FLUID; GENETICS; PRESCHOOL CHILD; PSYCHOMOTOR DISORDER; SEIZURE;

CARBOHYDRATE DEHYDROGENASES; CASE REPORT; CHILD; CHILD, PRESCHOOL; FEMALE; GLYCINE; HUMAN; INFANT; MALE; MICROCEPHALY; PSYCHOMOTOR DISORDERS; SEIZURES; SERINE; TREATMENT OUTCOME; HUMANS; PHOSPHOGLYCERATE DEHYDROGENASE;

EID: 0035987979     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1015624726822     Document Type: Article

References (10)

1. Tubular re-resorption of free amino acids in infancy and childhood
2. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency
3. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency
4. Continuing education in neurometabolic disorders-serine deficiency disorders
5. Phenotypic heterogeneity and adverse effects of serine treatment in 3-phosphoglycerate dehydrogenase deficiency: Report on two siblings
6. 3-Phosphoglycerate dehydrogenase deficiency: An inborn error of serine biosynthesis
7. Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency-a neurometabolic disorder associated with reduced L-serine biosynthesis
8. 3-Phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
9. Kinetics of neutral amino acid transport across the blood-brain barrier
10. Enzymes of serine metabolism in normal, developing and neoplastic rat tissues