Inborn errors of metabolism should be suspected in those with suspicious family or obstetric
history. The commonest presentation in neonates is acute encephalopathy. Arterial blood …

Inborn errors of metabolism should be suspected in those with suspicious family or obstetric
history. The commonest presentation in neonates is acute encephalopathy. Arterial blood …

Screening for Inborn Errors of Metabolisn~ Inborn errors of metabolism (IEMs) are genetic
disorders occurring due to lack of an enzyme in the metabolic cascade in our body (1). This …

Inborn errors of metabolism (IEM) are an important cause of acute illness in newborns.
Presentation may mimic common neonatal conditions such as sepsis. Prompt detection …

The rapid deterioration of a previously healthy-appearing neonate is one of the most
stressful scenarios in medicine. Unless appropriate therapy is initiated without delay, there is …

Inborn errors of metabolism are individually rare, but collectively are responsible for
significant levels of paediatric morbidity and mortality. More than 400 biochemically diverse …

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 …

Many pediatricians who deal with unhealthy children, might have come across a newborn or
an infant with a critical general condition, convulsion, sever hypotonia, and acid-base …

Inborn errors of metabolism (IEM) are disorders caused by a deficiency of enzyme catalysis
or an enzyme that facilitates the transport of biological substances across membranes. More …

Inborn errors of metabolism constitute an important cause of neurological disease in the
neonatal period and can present clinically as encephalopathy. Although it is relatively rare, it …