The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations.

Investigation of seven patients from three families suspected of a fatty acid oxidation defect showed mean CPT-I enzyme activity of 5.9+/-4.9 percent of normal controls.

Congenital rickets caused by maternal vitamin D deficiency.

The cases of four newborn infants with congenital rickets are reported. All infants were native Canadian: three were Cree and one was Inuit. One had a narrow chest and pulmonary hypoplasia, two had clinical and radiological signs of rickets with craniotabes, thickened wrists, and prominent costochondral junctions, and one had perinatal asphyxia and hydrops.

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Enteropeptidase (enterokinase [E.C.3.