Explain how the genetic defect alters normal physiology and how the genetic alteration manifests.

Genetic | Nursing homework help

The genetic defect in question is caused by a mutation in the gene that codes for cystathionine beta-synthase (CBS), an enzyme responsible for converting homocysteine to methionine. This alteration leads to increased levels of homocysteine which can cause serious health issues such as stroke, heart attack, and osteoporosis. Additionally, CBS mutations have been linked to other disorders such as depression and schizophrenia.

In terms of normal physiology, elevated homocysteine levels reduce the body’s ability to produce essential vitamins and minerals resulting in deficiencies that can lead to a variety of symptoms including fatigue, headache, low energy levels, poor memory and concentration difficulties. In more severe cases this mutation can also cause physical deformities or mental impairment due to its effect on neural development during early stages of life.