Glutaric acidemia type 1

Overview

What is glutaric acidemia type 1?

Glutaric acidemia type 1 (GA-1) is a rare genetic condition in which the body cannot break down certain types of amino acids, or "building blocks" of proteins. People with GA-1, who have too much of these amino acids in their body, can develop serious health issues, including brain damage. However, when GA-1 is detected and treated early, most people will live normal, healthy lives.

The symptoms for individuals with GA-1 can vary. Babies with GA-1 may be born with or develop a larger-than-average head, have poor feeding, or muscle weakness (hypotonia). As time goes on, if untreated, they may have movement problems, seizures, developmental delays, or intellectual problems. Early diagnosis and treatment is important to minimize symptoms, as individuals with GA-1 will be on a life-long treatment and low-protein diet.

For individuals undergoing treatment for GA-1, stress, illness, and infection can often trigger symptoms. Therefore, if your child develops a fever, diarrhea or vomiting, it is important to consult your child's pediatric metabolic specialist.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/glutaric-acidemia-i/overview/760 • DATE UPDATED: 2016-06-15

References

http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-i

http://www.nhs.uk/Conditions/glutaric-aciduria/Pages/Introduction.aspx

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