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Serine biosynthesis and transport defects.
Mol Genet Metab. 2016 07; 118(3):153-159.MG

Abstract

l-serine is a non-essential amino acid that is biosynthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). Besides its role in protein synthesis, l-serine is a potent neurotrophic factor and a precursor of a number of essential compounds including phosphatidylserine, sphingomyelin, glycine, and d-serine. Serine biosynthesis defects result from impairments of PGDH, PSAT, or PSP leading to systemic serine deficiency. Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu-Laxova syndrome, a lethal multiple congenital anomaly disease, intermediately, infantile serine biosynthesis defects with severe neurological manifestations and growth deficiency, and at the mild end, the childhood disease with intellectual disability. A serine transport defect resulting from deficiency of the ASCT1, the main transporter for serine in the central nervous system, has been recently described in children with neurological manifestations that overlap with those observed in serine biosynthesis defects. l-serine therapy may be beneficial in preventing or ameliorating symptoms in serine biosynthesis and transport defects, if started before neurological damage occurs. Herein, we review serine metabolism and transport, the clinical, biochemical, and molecular aspects of serine biosynthesis and transport defects, the mechanisms of these diseases, and the potential role of serine therapy.

Authors+Show Affiliations

Division of Clinical Genetics and Metabolic Disorders, Pediatrics Department, Tawam Hospital, Al-Ain, United Arab Emirates. Electronic address: elhattabaw@yahoo.com.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

27161889

Citation

El-Hattab, Ayman W.. "Serine Biosynthesis and Transport Defects." Molecular Genetics and Metabolism, vol. 118, no. 3, 2016, pp. 153-159.
El-Hattab AW. Serine biosynthesis and transport defects. Mol Genet Metab. 2016;118(3):153-159.
El-Hattab, A. W. (2016). Serine biosynthesis and transport defects. Molecular Genetics and Metabolism, 118(3), 153-159. https://doi.org/10.1016/j.ymgme.2016.04.010
El-Hattab AW. Serine Biosynthesis and Transport Defects. Mol Genet Metab. 2016;118(3):153-159. PubMed PMID: 27161889.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Serine biosynthesis and transport defects. A1 - El-Hattab,Ayman W, Y1 - 2016/04/22/ PY - 2016/04/06/received PY - 2016/04/20/revised PY - 2016/04/20/accepted PY - 2016/5/11/entrez PY - 2016/5/11/pubmed PY - 2017/8/30/medline KW - ASCT1 KW - Neu–Laxova syndrome KW - Phosphoglycerate dehydrogenase (PGDH) KW - Phosphoserine aminotransferase (PSAT) KW - Phosphoserine phosphatase (PSP) KW - SLC1A4 gene KW - Serine transporter SP - 153 EP - 159 JF - Molecular genetics and metabolism JO - Mol Genet Metab VL - 118 IS - 3 N2 - l-serine is a non-essential amino acid that is biosynthesized via the enzymes phosphoglycerate dehydrogenase (PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP). Besides its role in protein synthesis, l-serine is a potent neurotrophic factor and a precursor of a number of essential compounds including phosphatidylserine, sphingomyelin, glycine, and d-serine. Serine biosynthesis defects result from impairments of PGDH, PSAT, or PSP leading to systemic serine deficiency. Serine biosynthesis defects present in a broad phenotypic spectrum that includes, at the severe end, Neu-Laxova syndrome, a lethal multiple congenital anomaly disease, intermediately, infantile serine biosynthesis defects with severe neurological manifestations and growth deficiency, and at the mild end, the childhood disease with intellectual disability. A serine transport defect resulting from deficiency of the ASCT1, the main transporter for serine in the central nervous system, has been recently described in children with neurological manifestations that overlap with those observed in serine biosynthesis defects. l-serine therapy may be beneficial in preventing or ameliorating symptoms in serine biosynthesis and transport defects, if started before neurological damage occurs. Herein, we review serine metabolism and transport, the clinical, biochemical, and molecular aspects of serine biosynthesis and transport defects, the mechanisms of these diseases, and the potential role of serine therapy. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/27161889/Serine_biosynthesis_and_transport_defects_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(16)30053-1 DB - PRIME DP - Unbound Medicine ER -