Propionic Acidaemia

Patients with the severe form of this disease present within a few days of birth. They develop deep, rapid respiration, refuse feeds and become drowsy, dehydrated and comatose. There is hypotonia and vomiting, and there may be convulsions and hepatomegaly. Some of these cases respond to treatment, but this needs to be vigorously applied. Other patients present with a more chronic disease.

ENZYME TEST: Propionyl-CoA carboxylase is assayed for diagnosis of this disorder.

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