Health TopicsGenetic disorders and birth defects

Genetic disorders and birth defects

Find out everything you need to know about genetic disorders, including symptoms, treatment, causes, management and more.

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What medications can help treat phenylketonuria?
In addition to a low-phenylalanine diet, treatment for PKU may include one of these medications.

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4 steps to take when diagnosed with Huntington’s disease
Important steps to take in the months following a diagnosis of Huntington’s disease.

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Coordinating care for Huntington’s disease
Strategies to promote good communication among the different members of your healthcare team for Hun...

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Huntington’s disease: 5 strategies for self-advocacy
Strategies to help you and your caregivers take an active role in your treatment for Huntington’s di...

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Working with a pediatric PKU healthcare team
An overview of the pediatric healthcare providers that treat PKU and questions to ask your child’s h...

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PKU: Strategies for following a low phenylalanine diet
Adhering to a low-phenylalanine diet is one of the most challenging aspects of managing phenylketonu...

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An overview of treatment for phenylketonuria
Why a low-phenylalanine diet remains critical to treatment for PKU and how treatment options have ex...

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Must-know facts about mitochondrial disease
Learn about the surprising disease that may have afflicted Charles Darwin

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Paroxysmal nocturnal hemoglobinuria: symptoms and complications
Symptoms of PNH tend to occur in episodes, but PNH can lead to serious complications, especially if ...

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5 things to know about immunoglobulin replacement therapy for PI
The main treatment for most forms of primary immunodeficiency (PI) is immunoglobulin replacement the...