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Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges.
J Child Neurol. 2017 05; 32(6):543-549.JC

Abstract

Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. The phenotype was variable with absence of seizures in 2 sisters in family 1 and 1 infant in family 2 and seizures with pronounced happy affect in 3 sisters in family 3. The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. With such phenotypic variability, the diagnosis of PGDH deficiency can be challenging.

Authors+Show Affiliations

1 Joe DiMaggio Children's Hospital, Hollywood, FL, USA. 2 Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, FL, USA.2 Florida Atlantic University Charles E. Schmidt College of Medicine, Boca Raton, FL, USA.3 Department of Radiology, Memorial Healthcare System, Hollywood, FL, USA.4 Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.4 Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands.5 Pediatrics Medical Genetic Unit (PMGU), Pediatrics Department, Qatif Central Hospital, Qatif, Saudi Arabia.6 Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

28135894

Citation

Benke, Paul J., et al. "Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges." Journal of Child Neurology, vol. 32, no. 6, 2017, pp. 543-549.
Benke PJ, Hidalgo RJ, Braffman BH, et al. Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. J Child Neurol. 2017;32(6):543-549.
Benke, P. J., Hidalgo, R. J., Braffman, B. H., Jans, J., Gassen, K. L. I. V., Sunbul, R., & El-Hattab, A. W. (2017). Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. Journal of Child Neurology, 32(6), 543-549. https://doi.org/10.1177/0883073817690094
Benke PJ, et al. Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. J Child Neurol. 2017;32(6):543-549. PubMed PMID: 28135894.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Infantile Serine Biosynthesis Defect Due to Phosphoglycerate Dehydrogenase Deficiency: Variability in Phenotype and Treatment Response, Novel Mutations, and Diagnostic Challenges. AU - Benke,Paul J, AU - Hidalgo,Ryan J, AU - Braffman,Bruce H, AU - Jans,Judith, AU - Gassen,Koen L I van, AU - Sunbul,Rawda, AU - El-Hattab,Ayman W, Y1 - 2017/01/31/ PY - 2017/2/1/pubmed PY - 2017/7/15/medline PY - 2017/2/1/entrez KW - Neu-Laxova syndrome KW - PGDH KW - microcephaly KW - seizures KW - spasticity SP - 543 EP - 549 JF - Journal of child neurology JO - J. Child Neurol. VL - 32 IS - 6 N2 - Serine biosynthesis defects can present in a broad phenotypic spectrum ranging from Neu-Laxova syndrome, a lethal disease with multiple congenital anomalies at the severe end, to an infantile disease with severe psychomotor retardation and seizures as an intermediate phenotype, to a childhood disease with intellectual disability at the mild end. In this report we present 6 individuals from 3 families with infantile phosphoglycerate dehydrogenase (PGDH) deficiency who presented with psychomotor delay, growth failure, microcephaly, and spasticity. The phenotype was variable with absence of seizures in 2 sisters in family 1 and 1 infant in family 2 and seizures with pronounced happy affect in 3 sisters in family 3. The initiation of serine treatment had pronounced effect on seizures and spasticity in the sisters in family 3, but minimal developmental effects on the children in families 1 and 2. With such phenotypic variability, the diagnosis of PGDH deficiency can be challenging. SN - 1708-8283 UR - https://wwww.unboundmedicine.com/medline/citation/28135894/Infantile_Serine_Biosynthesis_Defect_Due_to_Phosphoglycerate_Dehydrogenase_Deficiency:_Variability_in_Phenotype_and_Treatment_Response_Novel_Mutations_and_Diagnostic_Challenges L2 - http://journals.sagepub.com/doi/full/10.1177/0883073817690094?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -