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- Title
The Occurrence of Phenylketonuria and Galactosemia Within the Same Family.
- Authors
Fisch, Robert O.; Goosens, Kathleen A.; Tsai, Michael Y.; Seelig, Steve; Schwichtenberg, Kerry
- Abstract
The article reports that a family in which one male sibling fathered a Phenylketonuric daughter and a second male sibling fathered two galactosemic daughters prompted a detailed investigation of the immediate family members of these two siblings. This paper describes the phenylketonuric (PKU) and galactosemic carrier status of the tested family members and shows the paths of inheritance of the genes involved. This study also reveals a very high incidence of carrier states for these two relatively rare disorders among the siblings of the two fathers described.
- Subjects
PHENYLKETONURIA; GALACTOSEMIA; AMINO acid metabolism disorders; INTELLECTUAL disabilities; FAMILIES; GENES
- Publication
Clinical Pediatrics, 1985, Vol 24, Issue 8, p456
- ISSN
0009-9228
- Publication type
Article
- DOI
10.1177/000992288502400808