A connective tissue disorder caused by mutations of the lysyl hydroxylase 3 gene.

Lysyl hydroxylase 3 (LH3, encoded by PLOD3) is a multifunctional enzyme capable of catalyzing hydroxylation of lysyl residues and O-glycosylation of hydroxylysyl residues producing either monosaccharide (Gal) or disaccharide (Glc-Gal) derivatives, reactions that form part of the many posttranslational modifications required during collagen biosynthesis. Animal studies have confirmed the importance of LH3, particularly in biosynthesis of the highly glycosylated type IV and VI collagens, but to date, the functional significance in vivo of this enzyme in man is predominantly unknown. We report here a human disorder of LH3 presenting as a compound heterozygote with recessive inheritance.

Combined deficiency of iron and vitamin D in Asian toddlers.

One hundred and forty five Asian children born at Sorrento Maternity Hospital, Birmingham, were reviewed at the age of 22 months. A significant association of iron deficiency and poor vitamin D state was found. Two fifths of the children were anaemic, two fifths had a low plasma concentration of vitamin D, and one fifth had both features.

Comparison of two methods of predicting outcome in perinatal asphyxia.

In a follow-up study of 122 full-term infants in whom postasphyxial encephalopathy occurred the incidence of death or severe handicap was 1 in 1000 deliveries. The abilities of two methods of diagnosing intrapartum asphyxia to predict outcome at a median age of 2.5 years were compared.

Tuberculin response two years after BCG vaccination at birth.

One hundred and forty nine Asian children who received BCG vaccine shortly after birth were reviewed at the age of 22 months. Many of them had an apparently inadequate response to the vaccine. A quarter had no scar, and half of the children with a scar had a negative response to 10 TU (Mantoux 1/1000) and these children showed only limited lymphocyte transformation in vitro in response to tuberculin.