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[Transient neonatal tyrosinemia: a frequent abnormality]
E C Camargo Neto1, J Schulte, E V Anele
1Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, Brazil.
Jornal De Pediatria
|December 20, 2003
Summary
Transient neonatal tyrosinemia, a common finding in newborns (1/372), often presents with elevated tyrosine and sometimes phenylalanine levels. Close monitoring and potential interventions are recommended for affected infants.
Area of Science:
- Biochemistry
- Neonatal Medicine
- Metabolic Disorders
Background:
- Transient neonatal tyrosinemia is a metabolic condition observed in newborns.
- Neonatal screening programs identify various inborn errors of metabolism.
Purpose of the Study:
- To determine the incidence of transient neonatal tyrosinemia and secondary hyperphenylalaninemia.
- To assess the necessity of monitoring and therapeutic interventions for affected neonates.
Main Methods:
- Qualitative amino acid thin-layer chromatography on 457,870 dried blood samples from neonates.
- Quantitative fluorimetric measurement of serum tyrosine and phenylalanine in positive cases.
Main Results:
- 1,231 samples showed positive results for tyrosine.
- 409 neonates had high tyrosine levels; 118 of these also had elevated phenylalanine.
- The overall frequency of transient neonatal tyrosinemia was found to be approximately 1 in 372 births.
Conclusions:
- Transient neonatal tyrosinemia is a frequent condition in newborns.
- Elevated levels of both tyrosine and phenylalanine can occur.
- Pediatricians should consider monitoring and intervention strategies for these neonates.