Molecular diagnosis and inborn errors of metabolism: A practitioner's view

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...

Inborn errors of metabolism in infancy: a guide to diagnosis.

Recent advances in the diagnosis and treatment of inborn errors of metabolism have improved substantially the prognosis for many of these conditions. This makes it essential that the practicing pediatrician be familiar with the clinical presentation of these disorders. A practical clinical approach to the recognition of inborn errors of metabolism in the young infant is presented in this review...

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...

Inborn Errors of Metabolism: Advances in Diagnosis and Therapy.

Inborn errors of metabolism (IEMs) are a large class of genetic disorders characterized by disruption of cellular biochemical functions. Although individual IEMs are rare, collectively they represent a large and diverse class of genetic conditions, with new disorders and disease mechanisms being described regularly. Advances in the understanding of the molecular and biochemical etiologies of ma...

The Role of Radio-diagnosis in Inborn Errors of Metabolism