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Genetic Disorders 3
| Question | Answer |
|---|---|
| * Name | Galactosemia |
| * Mode of Inheritance | A defect in galactose metabolism |
| * Mistake | The enzymes needed for further metabolism of galactose are severely diminished or missing entirely, leading to toxic levels of galactose to build up in the blood, |
| * Population Effect | 1 per 47,000 births |
| * Physical Attributes | Speech deficits Ataxia Dysmetria Diminished bone density Premature ovarian failure Cataract |
| * Treatment | The treatment for classic galactosemia is removing lactose and galactose from the diet. |
| * Lifespan & Quality Life | They usually live through adulthood.People who get an early diagnosis and strictly avoid milk products can live a relatively normal life. |