Female, age 6, with carnitine deficiency, thyroid disease, episodes of brain disease (episodic encephalopathy), problems with coordination (ataxia), and low blood sugar (hypoglycemia)
May 20, 2019
When the participant was almost two years old, she became ill and experienced hallucinations (altered mental status), problems with coordination (ataxia), and crossed eyes (strabismus). She continued to have these episodes for about a year. When she was three years old, she was hospitalized during an episode and tests revealed metabolomic abnormalities (hypoglycemia, ketosis, metabolic acidosis, and low levels of free carnitine). She had undetectable levels of thyroid stimulating hormone (TSH) and thyroid-related antibodies were positive. She improved while taking steroids and most of her symptoms went away. However, she continued to have low carnitine levels. She is currently taking a carnitine supplement, which has improved her carnitine levels.
Her younger sister is now two years old and may have a similar condition. When she was born, her newborn screening test results were abnormal with borderline low carnitine and an abnormal acylcarnitine profile with low C3 and C16. She may also be showing some signs of gross motor delay and poor eye tracking.
Shared symptoms/signs:
Older sister only:
Younger sister only:
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