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A 14-month-old girl with a virtual arrest in development at a 3-month stage was found to have methylmalonic acidemia. She was unresponsive to large doses of B12 or of dimethylbenzimadazole cobamide. Dietary therapy was devised to restrict protein containing isoleucine, threonine, valine, and methionine to the amounts required for growth. She had a dramatic response both clinically and chemically. Catch-up somatic growth was matched by growth in head size and intellectual development. These observations indicate that marked improvement in brain function may occur during the treatment of metabolic disease, even well after a year of age. more...

Cystic fibrosis (CF) of the pancreas was initially thought to be an inborn error of metabolism affecting only exocrine tissue. In 1969, the demonstration by Danes and Bearn1 of metachromasia in cultivated fibroblasts obtained from patients with CF gave experimental support to the hypothesis that all CF cells reflect the basic biochemical defect. After this initial report several investigators observed that tissue cultured cells from some patients with CF and heterozygotes accumulated increased quantities of acid mucopolysaccharides and glycogen. No basic defect in these cell culture systems has been identified. No definitive test for the detection of the heterozygote state is available. See table in the PDF file more...

A newborn infant presented with bloody stools at birth associated with swallowing maternal blood following partial abruption of the placenta. Hyperbilirubinemia appeared in the first 12 hours of life, and the usual causes were excluded. The postulate is made that the hyperbilirubinemia was the result of the absorption of heme from the ingested maternal blood. more...