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Friday afternoon, just before the our clinical rounds one of my co-residents, Lianjie Li, was called to see a boy with a rash at our Children’s Hospital. I grabbed my -analog- camera and tagged along.
The child was a two year old boy with an inborn error of branch chain amino acid metabolism.
The inital diagnosis was made in his older sister shortly after her birth. She had diarrhea and failure to thrive that ultimately revealed an enzyme deficiency in the metabolism of propionic acid.
Both children were on special diets supplemented with enteric diets and
both had chronic skin lesions.