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Inborn errors of metabolism of acute onset in infancy

J C Ward1

  • 1Division of Genetics, University of Tennessee-Memphis.

Pediatrics in Review
|January 1, 1990
PubMed

Insights

Recognizing over 70 inherited metabolic disorders in infants is crucial for early diagnosis and treatment. Familiarity with symptoms and appropriate screening tests enable primary clinicians to initiate effective evaluations for these serious conditions.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Over 70 inborn errors of metabolism present acutely in neonates and infants.
  • Early recognition by primary clinicians is vital for timely intervention.

Observation:

  • Clinical presentation of inborn errors varies.
  • Metabolic acidosis, hyperammonemia, and hypoglycemia are key indicators.

Findings:

  • Clinician familiarity with symptoms guides initial laboratory screening.
  • Specific tests and specialist consultation are indicated for certain metabolic derangements.
  • This paper provides a framework for primary clinicians to effectively evaluate these conditions.

Implications:

  • Accurate diagnosis enables appropriate acute and chronic management.
  • Prenatal diagnosis is possible for many disorders, especially those with incomplete treatment or lethality.
  • Understanding recurrence risks (≥1 in 4) underscores the importance of genetic counseling and early identification.

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