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

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A mutation of the cystathionine -synthase gene (CBS) is responsible for this genetic deficiency. CBS converts homocysteine in methionine. The mutation leads to an increase in homocysteine, which is linked with serious health problems such as heart attacks, strokes, and osteoporosis. CBS mutations are also linked with other conditions such as schizophrenia and depression.

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. The effects of this mutation on the neural development in early life can cause mental and physical disabilities.