Results: We identified 1015 well-characterized inborn errors of metabolism described in the literature.

Newborn infants with inborn errors of lipid metabolism are relatively rare.

Orthotopic liver transplantation remains the only curative therapy for inborn errors of metabolism.

Infants with inborn errors of metabolism or liver disease were excluded.

Samples were initially submitted to screening tests for detection of inborn errors of metabolism.

For many inborn errors of metabolism, early treatment is critical to prevent long-term developmental sequelae.

In children, hyperammonemia is mainly caused by severe liver failure and inborn errors of metabolism.

HL deficiency in humans is one of the many inborn errors of CoA ester metabolism.

Purpose: We propose a nosology for inborn errors of metabolism that builds on their recent redefinition.

The lower incidence of infectious events at adulthood distinguish DS from other inborn errors of immunity.

Background: The molecular consequences of inborn errors of vitamin B12 or cobalamin metabolism are far from being understood.

Pentosuria is one of four conditions hypothesized by Archibald Garrod in 1908 to be inborn errors of metabolism.

A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism.

Introduction: Newborn screening is important for early diagnosis and effective treatment of inborn errors of metabolism (IEM).

Lysosomal storage diseases are a group of rare inborn errors of metabolism resulting from deficiency in normal lysosomal function.

Unfortunately, cellular and animal models that accurately recapitulate these inborn errors of hepatic metabolism in the laboratory have been lacking.