Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are
caused by mutations in the specific genes that lead to impaired proteins or enzymes …

Amino acids serve as key building blocks and as an energy source for cell repair, survival,
regeneration and growth. Each amino acid has an amino group, a carboxylic acid, and a …

Inborn errors of metabolism (IEMs) are a large class of genetic disorders that result from
defects in enzymes involved in energy production and metabolism of nutrients. For every …

In recent years the number of disorders known to affect amino acid synthesis has grown
rapidly. Nor is it just the number of disorders that has increased: the associated clinical …

In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function
mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of …

Background Inborn errors of metabolism are neglected in developing countries because
they are not as common as infectious and nutritional disorders. In Tunisia, no information is …

Background Amino acidopathies are a class of inborn errors of metabolism (IEM) that can be
diagnosed by analysis of amino acids (AA) in plasma. Current strategies for AA analysis …

We screened 2560 referred cases for inborn errors of amino acid metabolism by chemical
tests and thin-layer chromatography of urine/plasma. In 62 (2.4%) cases, eleven inherited …

BACKGROUND: Intellectual disability ('developmental delay'at age< 5years) affects 2.5% of
population worldwide. Recommendations to investigate genetic causes of intellectual …

To diagnose inborn errors of metabolism, it would be desirable to simultaneously analyze
and quantify organic acids, purines, pyrimidines, amino acids, sugars, polyols, and other …