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A report of accidental ethylene glycol ingestion in 2 siblings

E A De Leacy1, L N Moxon, V M Ellis

  • 1Pathology Department, Mater Misericordiae Hospital, South Brisbane, Australia.

Pathology
|July 1, 1995
PubMed

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...