An update on serine deficiency disorders

• Published in: Journal of inherited metabolic disease 2013-07, Vol.36 (4), p.613-619
• Main Authors: van der Crabben, S. N., Verhoeven-Duif, N. M., Brilstra, E. H., Van Maldergem, L., Coskun, T., Rubio-Gozalbo, E., Berger, R., de Koning, T. J.
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors - blood; Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid; Amino Acid Metabolism, Inborn Errors - drug therapy; Amino Acid Metabolism, Inborn Errors - pathology; Biochemistry; Child; Child, Preschool; Human Genetics; Humans; Infant; Infant, Newborn; Internal Medicine; Medicine; Medicine & Public Health; Metabolic Diseases; Microcephaly - blood; Microcephaly - cerebrospinal fluid; Microcephaly - drug therapy; Original Article; Pediatrics; Phosphoglycerate Dehydrogenase - deficiency; Phosphoric Monoester Hydrolases - deficiency; Psychomotor Disorders - blood; Psychomotor Disorders - cerebrospinal fluid; Psychomotor Disorders - drug therapy; Seizures - blood; Seizures - cerebrospinal fluid; Seizures - drug therapy; Serine - biosynthesis; Serine - blood; Serine - cerebrospinal fluid; Serine - deficiency; Transaminases - blood; Transaminases - cerebrospinal fluid; Transaminases - deficiency; Young Adult
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1007/s10545-013-9592-4

Serine deficiency disorders are caused by a defect in one of the three synthesising enzymes of the L-serine biosynthesis pathway. Serine deficiency disorders give rise to a neurological phenotype with psychomotor retardation, microcephaly and seizures in newborns and children or progressive polyneuropathy in adult patients. There are three defects that cause serine deficiency of which 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, the defect affecting the first step in the pathway, has been reported most frequently. The other two disorders in L-serine biosynthesis phosphoserine aminotransferase (PSAT) deficiency and phosphoserine phosphatase (PSP) deficiency have been reported only in a limited number of patients. The biochemical hallmarks of all three disorders are low concentrations of serine in cerebrospinal fluid and plasma. Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of neurometabolic disorders. The use of age-related reference values for serine in CSF and plasma can be of great help in establishing a correct diagnosis of serine deficiency, in particular in newborns and young children.