Urea cycle disorders (UCDs) are inborn errors of ammonia detoxification/arginine synthesis
due to defects affecting the catalysts of the Krebs-Henseleit cycle (five core enzymes, one …

Aberrant glycosylation is a key feature of malignant transformation. Hypersialylation, the
enhanced expression of sialic acid-terminated glycoconjugates on the cell surface, has …

Autism spectrum disorders are a genetically heterogeneous constellation of syndromes
characterized by impairments in reciprocal social interaction. Available somatic treatments …

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 …

Many metabolic liver disorders are refractory to drug therapy and require orthotopic liver
transplantation. Here we demonstrate a new strategy, which we call metabolic pathway …

Objective: To describe the current treatment; clinical, biochemical, and molecular findings;
and clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) …

Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder due to the
deficient activity of the acid beta-glucosidase (GCase) enzyme, resulting in the progressive …

Genetic test results can have considerable importance for patients, their parents and more
remote family members. Clinical therapy and surveillance, reproductive decisions and …

Rare diseases are infrequent, but together they affect up to 6–10% of the world's population,
mainly children. Patients require precise doses and strict adherence to avoid metabolic or …

Objectives The present study summarizes clinical and biochemical findings, current
treatment strategies and follow-up in patients with tetrahydrobiopterin (BH 4) deficiencies …