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An update on serine deficiency disorders.
S N van der Crabben1, N M Verhoeven-Duif, E H Brilstra
1Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Journal of Inherited Metabolic Disease
|March 7, 2013
Summary
Serine deficiency disorders, affecting L-serine biosynthesis, cause neurological issues. Early diagnosis using serine levels in CSF and plasma is crucial for treating these neurometabolic conditions.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Serine deficiency disorders stem from defects in L-serine biosynthesis enzymes.
- These disorders manifest as neurological symptoms like psychomotor retardation, microcephaly, seizures, or polyneuropathy.
- Three enzyme defects exist: 3-phosphoglycerate dehydrogenase (3-PGDH), phosphoserine aminotransferase (PSAT), and phosphoserine phosphatase (PSP) deficiencies.
Purpose of the Study:
- To highlight the importance of recognizing serine deficiency disorders.
- To emphasize the treatable nature of these neurometabolic conditions.
- To underscore the diagnostic utility of serine levels in cerebrospinal fluid (CSF) and plasma.
Main Methods:
- Biochemical analysis of L-serine biosynthesis pathway enzymes.
- Measurement of serine concentrations in CSF and plasma.
- Correlation of biochemical findings with clinical phenotypes.
Main Results:
- Low serine concentrations in CSF and plasma are biochemical hallmarks for all three disorders.
- 3-PGDH deficiency is the most frequently reported defect.
- PSAT and PSP deficiencies are rarer, with fewer reported cases.
Conclusions:
- Serine deficiency disorders are treatable neurometabolic conditions requiring prompt diagnosis.
- Utilizing age-related reference values for CSF and plasma serine is vital for accurate diagnosis, especially in infants and children.
- Early identification enables timely intervention, potentially mitigating neurological sequelae.
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