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Homocystinuria
Educational only: videos on MedicalVideos.com are for general information and are not medical advice. Always consult your own doctor about your health.
Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life. Causes Homocystinuria is inherited in families as an autosomal recessive trait. This means that the child must inherit a non-working copy of the gene from each parent to be seriously affected. Homocystinuria has several features in common with Marfan syndrome, including joint and eye changes. Symptoms Newborn infants appear healthy. Early symptoms, if present, are not obvious. Symptoms may occur as mildly delayed development or failure to thrive. Increasing visual problems may lead to diagnosis of this condition. Other symptoms include: Chest deformities (pectus carinatum, pectus excavatum) Flush across the cheeks High arches of the feet Intellectual disability Knock knees Long limbs Mental disorders Nearsightedness Spidery fingers (arachnodactyly) Tall, thin build
This video in 30 seconds
This video explains homocystinuria, an inherited disorder affecting metabolism of the amino acid methionine. It describes inheritance as an autosomal recessive trait requiring a non-working gene copy from each parent, notes features in common with Marfan syndrome including joint and eye changes, and lists symptoms including delayed development or failure to thrive, visual problems, chest deformities, flush across the cheeks, high arches of the feet, intellectual disability, knock knees, long limbs, nearsightedness, spidery fingers and a tall, thin build.
Key points
- Explains homocystinuria as an inherited disorder of methionine metabolism
- Describes autosomal recessive inheritance
- Notes features in common with Marfan syndrome
- Lists symptoms including visual problems, chest deformities and long limbs
- Lists intellectual disability, knock knees and spidery fingers among symptoms described
Video Overview
This video presents “Homocystinuria” — Homocystinuria is an inherited disorder that affects the metabolism of the amino acid methionine. Amino acids are the building blocks of life. Causes Homocystinuria is inherited in families as an autosomal recessive trait. This means. 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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