Sep 11, 2017
The patient met all of his milestones until the age of 4 months when he stopped progressing. At 5 months, he began to have infantile spasms and high levels of alanine and lactate were found in his blood (hyperalaninemia and increased serum lactate). The spasms stopped a few months later after starting a second round of ACTH therapy. His lactate and alanine levels are well controlled on a low carbohydrate, high fat diet.
The patient started walking at 18 months of age and had some trouble speaking (speech apraxia). He has been making progress over time and is a very social boy.
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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