Antenatal diagnosis of inborn errors of metabolism.

Antenatal diagnosis of inborn errors of metabolism.

The introduction of experimental treatment for lysosomal storage disorders and the increasing understanding of the molecular defects behind many inborn errors have overshadowed the fact that for many affected families the best that can be offered is a rapid, accurate prenatal diagnostic service. Many conditions remain at best only partially treatable and as a consequence the majority of parents...

Diagnosis and management of inborn errors of metabolism.

Few paediatricians will have avoided the predicament of being faced with a desperately ill neonate for whom a diagnosis is not immediately obvious. The majority of such infants will have comparatively common neonatal problems such as systemic infection, congenital heart disease, necrotising enterocolitis, or intracranial haemorrhage. An appreciable minority, however, will have a potentially tre...

The Role of Radio-diagnosis in Inborn Errors of Metabolism

Diagnosis of inborn errors of metabolism by tandem mass spectrometry.

Technological advances are revolutionizing the way in which we can diagnose and screen whole populations for inborn errors of metabolism. These advances are also necessitating a reevaluation of the spectrum of metabolic disorders included in newborn screening program. The initial concept for inclusion into a screening program was based upon a number of factors, including the use of one test on ...

Garrod's Inborn Errors of Metabolism

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 ...