Neuropediatrics 2013; 44(05): 281-285
DOI: 10.1055/s-0033-1338133
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

3-Phosphoglycerate Dehydrogenase Deficiency: Description of Two New Cases in Tunisia and Review of the Literature

Ichraf Kraoua
1  Department of Child and Adolescent Neurology and UR 06/11, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
,
Elsa Wiame
2  Christian de Duve Institute, Université Catholique de Louvain (UCL), Brussels, Belgium
,
Lilia Kraoua
3  Department of Genetics, Charles Nicolle Hospital, Tunis, Tunisia
,
Fehmi Nasrallah
4  Laboratory of Biochemistry, La Rabta Hospital, Tunis, Tunisia
,
Hanen Benrhouma
1  Department of Child and Adolescent Neurology and UR 06/11, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
,
Aida Rouissi
1  Department of Child and Adolescent Neurology and UR 06/11, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
,
Ilhem Turki
1  Department of Child and Adolescent Neurology and UR 06/11, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
,
Habiba Chaabouni
3  Department of Genetics, Charles Nicolle Hospital, Tunis, Tunisia
,
Gilbert Briand
5  Laboratory of Biochemistry and Molecular Biology, University Hospital of Lille, Lille, France
,
Naziha Kaabachi
4  Laboratory of Biochemistry, La Rabta Hospital, Tunis, Tunisia
,
Emile Van Schaftingen
2  Christian de Duve Institute, Université Catholique de Louvain (UCL), Brussels, Belgium
,
Neziha Gouider-Khouja
1  Department of Child and Adolescent Neurology and UR 06/11, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia
› Author Affiliations
Further Information

Publication History

29 October 2012

28 January 2013

Publication Date:
06 April 2013 (online)

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.