Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency.
3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is an inborn error of serine biosynthesis. Patients are affected with congenital microcephaly, psychomotor retardation, and intractable seizures. The effects of oral treatment with amino acids were investigated in 2 siblings. L-Serine up to 500 mg/kg/day was not sufficient for seizure control. Addition of glycine 200 mg/kg/day resulted in complete disappearance of seizures. Electroencephalographic abnormalities gradually resolved after 6 months. We conclude that 3-PGDH can be treated effectively by a combination of L-serine and glycine.
de Koning
T J
TJ
University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands.
Duran
M
M
Dorland
L
L
Gooskens
R
R
Van Schaftingen
E
E
Jaeken
J
J
Blau
N
N
Berger
R
R
Poll-The
B T
BT
D002237:Carbohydrate Dehydrogenases / Q000172:deficiency*; D002648:Child; D002675:Child, Preschool; D004359:Drug Therapy, Combination; D004569:Electroencephalography / Q000187:drug effects; D005998:Glycine / Q000097:blood / Q000134:cerebrospinal fluid / Q000494:pharmacology / Q000627:therapeutic use*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology*; D008297:Male; D008831:Microcephaly / Q000209:etiology*; D050543:Phosphoglycerate Dehydrogenase; D012640:Seizures / Q000188:drug therapy* / Q000201:enzymology / Q000209:etiology; D012694:Serine / Q000097:blood / Q000134:cerebrospinal fluid / Q000494:pharmacology / Q000627:therapeutic use*; D013763:Tetrahydrofolates / Q000134:cerebrospinal fluid
D013763:Tetrahydrofolates; D012694:Serine; D002237:Carbohydrate Dehydrogenases; D050543:Phosphoglycerate Dehydrogenase; D005998:Glycine; C005984:5-methyltetrahydrofolate