Most inborn errors of metabolism (IEM) are recessive, genetically transmitted diseases and
are classified into 3 main groups according to their mechanisms: cellular intoxication, energy …

Inborn errors of metabolism (IEM) are a heterogeneous group of rare genetic disorders that
are generally transmitted as autosomal or X-linked recessive disorders. These defects arise …

Inborn errors of metabolism are individually rare, but collectively numerous. As a whole, they
cannot be recognized through systematic neonatal screening tests, which are too slow, too …

Once based mainly in paediatrics, inborn errors of metabolism (IEM), or inherited metabolic
disorders (IMD) represent a growing adult medicine specialty. Individually rare these …

Inborn errors of metabolism (IEMs) are a vast array of inherited/congenital disorders,
affecting a wide variety of metabolic pathways and/or biochemical processes inside the …

CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and
classically they result from the lack of activity of one or more specific enzymes or defects in …

Inborn errors of metabolism (IEMs) are rare genetic or inherited disorders resulting from an
enzyme defect in biochemical and metabolic pathways affecting proteins, fats …

Inherited metabolic disorders are a heterogeneous group of genetic conditions mostly
occurring in childhood. They are individually rare but collectively numerous, causing …

Although individual metabolic disorders are rare, collectively, inborn errors of metabolism
are not uncommon and paediatricians should be alert to the possibility of such disorders …

Great progress has been made in the field of hereditary metabolic diseases since the
beginning of the past century, when metabolic disorders were not really understood and …