The iron content of the body is normally closely regulated. Despite this, iron deficiency anaemia is common in women because iron losses due to menstruation and childbirth are not always compensated for by iron absorption from the diet. The role of transferrin in delivering iron to cells and of ferritin in storing iron within cells is well understood but the proteins involved in iron transport ...

Dr. Van Liere's earlier book on this subject* was probably the first detailed study of the biology of low oxygen pressure. Investigations of the effect of high altitude, using mountain climbing or balloon ascent as a tool, go back to the late eighteenth century, but the major impetus seems to have been the need for military aviation in World War I. This interest was maintained until about 1935 ...

The known disorders of cholesterol biosynthesis have expanded rapidly since the discovery that Smith-Lemli-Opitz syndrome is caused by a deficiency of 7-dehydrocholesterol. Each of the six now recognized sterol disorders-mevalonic aciduria, Smith-Lemli-Opitz syndrome, desmosterolosis, Conradi-Hünermann syndrome, CHILD syndrome, and Greenberg dysplasia-has added to our knowledge of the relations...

Expanded newborn screening (NBS) is aimed for early detection and intervention of treatable inborn errors of metabolism and also to establish incidence of these disorders in this part of the globe. The first expanded NBS programme initiated in the capital city of Andhra Pradesh to screen all the newborns born in four major Government Maternity Hospitals in Hyderabad by heel prick capillary bloo...

Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited. If intolerance to carbohydrates is a frequent finding in children, inborn errors of carbohydrate metabolism are rare conditions. Three inborn errors are known in the pathway of fructose metabolis...

Recent innovations in medical technology have changed newborn screening programs in the United States. The widespread use of tandem mass spectrometry is helping to identify more inborn errors of metabolism. Primary care physicians often are the first to be contacted by state and reference laboratories when neonatal screening detects the possibility of an inborn error of metabolism. Physicians m...

Garrod,4 in I908, introduced the term ' inborn errors of metabolism' to describe biochemical abnormalities which were genetically determined, present throughout life and relatively non-lethal. He suggested that it would ultimately be possible to attribute the biochemical aberrations found in these conditions to specific enzyme defects. Recent work5 has confirmed the validity of Garrod's ideas t...

I T is my intent to gather together facts pertaming to the lipidoses which might serve to focus on current problems and to call attention to possible therapeutic approaches. The particular lipidoses to be discussed involve the accumulation in tissues of sphingolipids and may be referred to as sphingolipidoses. They may be classified as “inborn errors of sphingolipid metabolism” on the basis tha...