title: 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
abstract: 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is a rare autosomal recessive disorder of serine biosynthesis. It is typically characterized by congenital microcephaly, intractable seizures of infantile onset, and severe psychomotor retardation. Diagnosis is suspected on decreased l-serine levels in plasma and cerebrospinal fluid (CSF) and confirmed by genetic study. Early diagnosis in index cases allows supplementation in serine and prevention of fixed lesions. Prenatal diagnosis and genetic counseling allows prevention of secondary cases. We report on the two first unrelated Tunisian families with 3-PGDH deficiency confirmed by biochemical and genetic study. We discuss clinical, biochemical, imaging, electroencephalographic, and therapeutic aspects and review the literature.
authors.affiliation: Department of Child and Adolescent Neurology and UR 06/11, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.
authors.forename: Ichraf
authors.initials: I
authors.lastname: Kraoua
authors.forename: Elsa
authors.initials: E
authors.lastname: Wiame
authors.forename: Lilia
authors.initials: L
authors.lastname: Kraoua
authors.forename: Fehmi
authors.initials: F
authors.lastname: Nasrallah
authors.forename: Hanen
authors.initials: H
authors.lastname: Benrhouma
authors.forename: Aida
authors.initials: A
authors.lastname: Rouissi
authors.forename: Ilhem
authors.initials: I
authors.lastname: Turki
authors.forename: Habiba
authors.initials: H
authors.lastname: Chaabouni
authors.forename: Gilbert
authors.initials: G
authors.lastname: Briand
authors.forename: Naziha
authors.initials: N
authors.lastname: Kaabachi
authors.forename: Emile
authors.initials: E
authors.lastname: Van Schaftingen
authors.forename: Neziha
authors.initials: N
authors.lastname: Gouider-Khouja
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000378:metabolism; D050543:Phosphoglycerate Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D012640:Seizures / Q000235:genetics* / Q000378:metabolism; D012694:Serine / Q000096:biosynthesis*; D014416:Tunisia
chemical_list: D012694:Serine; D050543:Phosphoglycerate Dehydrogenase