A century after the identification of a coenzymatic activity for NAD + , NAD + metabolism has
come into the spotlight again due to the potential therapeutic relevance of a set of enzymes …

X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly
complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads to …

The mitochondrial phospholipid cardiolipin plays an important role in cellular metabolism as
exemplified by its involvement in mitochondrial energy production and apoptosis. Following …

Identification of genes that are dysregulated in association with prostate carcinogenesis can
provide disease markers and clues relevant to disease etiology. Of particular interest as …

We report on three patients (two siblings and one unrelated) presenting in infancy with
progressive muscle weakness and paralysis of the diaphragm. Metabolic studies revealed a …

Barth syndrome (BTHS) is an X-linked recessive disorder caused by mutations in the tafazzin
(or TAZ) gene and is clinically characterized by (cardio)myopathy, neutropenia, and growth …

Cardiolipin is a mitochondrion-specific phospholipid that stabilizes the assembly of respiratory
chain complexes, favoring full-yield operation. It also mediates key steps in apoptosis. In …

Inappropriately elevated insulin secretion is the hallmark of persistent hyperinsulinemic
hypoglycemia of infancy (PHHI), also denoted congenital hyperinsulinism. Causal mutations …

Overexpression of α‐methylacyl‐CoA racemase (AMACR), an enzyme involved in branched
chain fatty acid β‐oxidation, in prostate cancer has been reported. Here, we report that an …

Background & Aims Severe malnutrition in young children is associated with signs of
hepatic dysfunction such as steatosis and hypoalbuminemia, but its etiology is unknown. …