1. Articles on metabolism

Metabolism

Metabolic diseases can have severe consequences unless diagnosed and treated as soon as possible. Genetic testing permits the earliest possible detection and treatment of affected individuals, even in newborns, and can prevent morbidity, mortality, and disabilities associated with inherited metabolic disorders.

Articles on metabolism

  • Urea cycle disorder

    Urea cycle disorders are a group of genetic disorders caused by a mutation that results in a deficiency of one of the six enzymes in the urea cycle. The urea cycle involves a series of biochemical steps in which nitrogen, a waste product of protein metabolism, is removed from the blood and converted…

  • C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease

    Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly ceramides. Hallmark symptoms at clinical level are periarticular nodules, lipogranulomas, swollen and…

  • Increased regenerative capacity of the olfactory epithelium in Niemann–Pick disease type C1

    Niemann–Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and glycosphingolipids from late endosomes/lysosomes to the endoplasmic reticulum resulting in progressive…

  • Mucopolysaccharidoses

    Mucopolysaccharidoses are a group of rare inherited metabolic disorders caused by the absence or dysfunction of lysosomal enzymes and subsequent lysosomal storage of glycosaminoglycans. This group of numerous and highly diverse diseases, with a broad range of symptoms and genetic causes, can be…

  • Joubert syndrome

    Joubert syndrome and related disorders (JSRD) are a group of rare autosomal recessive conditions characterized with developmental delay and multiple congenital anomalies. The obligatory hallmark of JRSD is the molar tooth sign (MTS), a complex midbrain-hindbrain malformation visible on brain…