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3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature.
Neuropediatrics. 2013 Oct; 44(5):281-5.N

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+Show Affiliations

Department of Child and Adolescent Neurology and UR 06/11, National Institute Mongi Ben Hmida of Neurology, Tunis, Tunisia.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

23564319

Citation

Kraoua, Ichraf, et al. "3-Phosphoglycerate Dehydrogenase Deficiency: Description of Two New Cases in Tunisia and Review of the Literature." Neuropediatrics, vol. 44, no. 5, 2013, pp. 281-5.
Kraoua I, Wiame E, Kraoua L, et al. 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. Neuropediatrics. 2013;44(5):281-5.
Kraoua, I., Wiame, E., Kraoua, L., Nasrallah, F., Benrhouma, H., Rouissi, A., Turki, I., Chaabouni, H., Briand, G., Kaabachi, N., Van Schaftingen, E., & Gouider-Khouja, N. (2013). 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. Neuropediatrics, 44(5), 281-5. https://doi.org/10.1055/s-0033-1338133
Kraoua I, et al. 3-Phosphoglycerate Dehydrogenase Deficiency: Description of Two New Cases in Tunisia and Review of the Literature. Neuropediatrics. 2013;44(5):281-5. PubMed PMID: 23564319.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - 3-Phosphoglycerate dehydrogenase deficiency: description of two new cases in Tunisia and review of the literature. AU - Kraoua,Ichraf, AU - Wiame,Elsa, AU - Kraoua,Lilia, AU - Nasrallah,Fehmi, AU - Benrhouma,Hanen, AU - Rouissi,Aida, AU - Turki,Ilhem, AU - Chaabouni,Habiba, AU - Briand,Gilbert, AU - Kaabachi,Naziha, AU - Van Schaftingen,Emile, AU - Gouider-Khouja,Neziha, Y1 - 2013/04/06/ PY - 2013/4/9/entrez PY - 2013/4/9/pubmed PY - 2014/5/9/medline SP - 281 EP - 5 JF - Neuropediatrics JO - Neuropediatrics VL - 44 IS - 5 N2 - 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. SN - 1439-1899 UR - https://www.unboundmedicine.com/medline/citation/23564319/3_Phosphoglycerate_dehydrogenase_deficiency:_description_of_two_new_cases_in_Tunisia_and_review_of_the_literature_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0033-1338133 DB - PRIME DP - Unbound Medicine ER -