Premium
3‐phosphoglycerate dehydrogenase deficiency in a patient with West syndrome
Author(s) -
Pineda M,
Vilaseca M A,
Artuch R,
Santos S,
González MM García,
Sau I,
Aracil A,
Schaftingen E,
Jaeken J
Publication year - 2000
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2000.tb00369.x
Subject(s) - microcephaly , failure to thrive , psychomotor learning , psychomotor retardation , medicine , inborn error of metabolism , west syndrome , pediatrics , epilepsy , psychology , endocrinology , pathology , psychiatry , cognition , alternative medicine
3‐phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, severe psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment with oral L‐serine abolished seizures and improved psychomotor development, hyperexcitability, head growth, cortical and subcortical hypotrophy, and hypomyelination of the brain on MRI scans. 3–phosphoglycerate dehydrogenase deficiency is a treatable congential error that probably leads to West syndrome.