Hereditary tyrosinemia type 1 is an inborn error of metabolism that affects numerous organs, particularly liver, kidneys and peripheral nerves. It usually presents in infants less than six months age with features liver failure, hepatoblastoma or hepatocellular carcinoma. Diagnosis by a combination clinical, biochemical imaging features. We report here the case four old infant presenting massiv...

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 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 ...

Glutaric acidemia type 1 (GA1) is an inborn error of metabolism caused by the deficiency enzyme glutaryl-CoA dehydrogenase, with consequent accumulation aminoacids lysine, hydroxylsine and tryptophan. About in every 100,000 individuals are affected disease. Neurological manifestations variable include acute chronic encephalopathic crises, dystonia, motor cognitive deficits, as well neuroimaging...