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Phenylketonuria Genetics
Educational only: videos on MedicalVideos.com are for general information and are not medical advice. Always consult your own doctor about your health.
Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to tyrosine, another amino acid.
This video in 30 seconds
This video explains the genetics of classical phenylketonuria. It identifies classical PKU as an autosomal recessive disorder caused by mutations in both alleles of the gene for phenylalanine hydroxylase, found on chromosome 12, and explains that this enzyme converts the amino acid phenylalanine to tyrosine.
Key points
- Identifies classical PKU as an autosomal recessive disorder
- Covers mutations in both alleles of the phenylalanine hydroxylase gene
- Notes the gene is found on chromosome 12
- Explains phenylalanine hydroxylase converts phenylalanine to tyrosine
Video Overview
This video presents “Phenylketonuria Genetics” — Classical PKU is an autosomal recessive disorder, caused by mutations in both alleles of the gene for phenylalanine hydroxylase (PAH), found on chromosome 12. In the body, phenylalanine hydroxylase converts the amino acid phenylalanine to. Whether you are preparing for a procedure, studying the technique, or learning how a condition is assessed, the recording shows the process as it is performed in practice.
From our Pediatrics collection: Pediatric videos: child health, newborn care, common childhood illnesses and pediatric procedures explained for parents, students and clinicians. Browse all Pediatrics videos →
Educational content only — not a substitute for professional medical advice.
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