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Phenylketonuria
Educational only: videos on MedicalVideos.com are for general information and are not medical advice. Always consult your own doctor about your health.
PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the altered gene. ... Gene alterations (mutations) in the PAH gene cause PKU.
This video in 30 seconds
This video explains the genetics of phenylketonuria, or PKU. It describes PKU as inherited in an autosomal recessive pattern, meaning a person has two copies of the altered gene and each parent usually carries one copy, and identifies gene alterations in the PAH gene as the cause.
Key points
- Explains PKU is inherited in an autosomal recessive pattern
- Covers each parent usually carrying one copy of the altered gene
- Identifies mutations in the PAH gene as the cause of PKU
Video Overview
This video presents “Phenylketonuria” — PKU is inherited in families in an autosomal recessive pattern. Autosomal recessive inheritance means that a person has two copies of the gene that is altered. Usually, each parent of an individual who has PKU carries one copy of the. 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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Founded by Dr. Mohamed Ibrahim, MD, PhD — physician-scientist.
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