Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.
Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3-7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. Amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L-serine. A favourable outcome of 3-PGDH deficiency depends on early diagnosis and treatment.
De Koning
T J
TJ
Department of Metabolic Diseases, University Medical Center Utrecht, The Netherlands. t.dekoning@wkz.azu.nl
Duran
M
M
Van Maldergem
L
L
Pineda
M
M
Dorland
L
L
Gooskens
R
R
Jaeken
J
J
Poll-The
B T
BT
D002237:Carbohydrate Dehydrogenases / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid; D006801:Humans; D007223:Infant; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D050543:Phosphoglycerate Dehydrogenase; D011596:Psychomotor Disorders / Q000235:genetics; D012640:Seizures / Q000188:drug therapy / Q000235:genetics*; D012694:Serine / Q000097:blood / Q000134:cerebrospinal fluid / Q000627:therapeutic use*; D016896:Treatment Outcome
D012694:Serine; D002237:Carbohydrate Dehydrogenases; D050543:Phosphoglycerate Dehydrogenase; D005998:Glycine