Well, Lianjie and I left the
bedside and went back to the nurse’ station, met up
with the metabolic disorders pediatric fellow, and
plugged into the net. None of us had seen a rash of
propionic acidemia before, but the special diet and
chronic nature of the rash led us to suspect
acrodermatitis enteropathica.
|
The Online Mendelian
Inheritance in Man web site describes many human genes
and genetic disorders from Victor McKusick's classic
textbook. Unlike a printed book, however, it is more
rapidly updated, totally searchable, and through
hypertext links, can give you recent references on rare
disorders. It turns out these organic acidurias,
methymalonic and propionic acidemia, can rob
keratinocytes of isoleucine, valine, methionine and
threonine. The cutaneous eruption can mimic
zinc-deficiency and acrodermatitis enteropathica. He
found he had normal alkaline phosphatase, pending zinc
levels, recommended some modifications to his diet. |
