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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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...

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What are the parts of a hereditary angioedema treatment plan?
Treatment for HAE can include on-demand and preventive therapies, as well as steps to identify and a...

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Are you prepared for a HAE emergency?
A guide to building your emergency action plan for HAE, including emergency plans and medical ID.

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Being a caregiver for someone with ATTR-CM
Why caregivers for people with this heart condition need to prioritize their health, including menta...

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Strategies to lower the cost of treatment for ATTR-CM
Strategies that may help ease your out-of-pocket costs for treating transthyretin amyloid cardiomyop...