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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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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
PubMed
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.

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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.