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Physical growth in phenylketonuria: I. A retrospective study
Pediatrics
|May 1, 1979
Summary
Phenylketonuria (PKU) patients showed normal stature if treated early, but untreated individuals experienced growth deficiencies. Early treatment improved head circumference compared to untreated phenylketonuria (PKU) patients.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Phenylketonuria (PKU) is a rare genetic disorder.
- Growth patterns in PKU patients are a significant concern.
Purpose of the Study:
- To analyze growth in height and head circumference in treated and untreated PKU patients.
- To compare growth findings with the Collaborative PKU Study.
Main Methods:
- Retrospective cross-sectional survey of 693 patients diagnosed with PKU in 1967.
- Reanalysis of questionnaires focusing on height and head circumference data.
- Adoption of PKU definition to match the Collaborative PKU Study criteria.
Main Results:
- Untreated outpatients (n=232) had normal stature, but institutionalized patients (n=31) showed reduced height (-1.4 SD).
- Untreated PKU patients exhibited normal head circumference at birth, decreasing with age to -1.4 SD in adults.
- Early treatment (before 121 days) in children (n=135) resulted in reduced height growth (-0.8 SD) and head circumference (-0.7 SD) compared to normal.
- Head circumference depression was less pronounced in treated PKU patients than in untreated ones.
Conclusions:
- While early treatment mitigates some growth deficits in PKU, normal growth is not consistently achieved.
- Findings suggest that even with early intervention, phenylketonuria (PKU) can impact growth parameters.
- Literature review supports the lack of convincing reports on normal growth during PKU treatment.
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