Inborn errors of metabolism

An idiosyncrasy is a unique feature of something. The term is often used to express peculiarity.

class of disease including endocrine diseases, nutritional diseases and metabolic diseases

Trimethylaminuria (TMAU), also known as fish odor syndrome or fish malodor syndrome, is a rare metabolic disorder that causes a defect in the normal production of an enzyme named flavin-containing monooxygenase 3 (FMO3). When FMO3 is not working correctly or if not enough enzyme is produced, the body loses the ability to properly convert the rotting fish smelling chemical trimethylamine (TMA) from precursor compounds in food digestion into trimethylamine oxide (TMAO), through a process called N-oxidation.

inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function

testing of newborn infants for medical conditions

Sitosterolemia, also known as phytosterolemia, is a rare autosomal recessively inherited lipid metabolic disorder. It is characterized by hyperabsorption and decreased biliary excretion of dietary sterols (including the phytosterol beta-sitosterol). Healthy persons absorb only about 5% of dietary plant sterols, but sitosterolemia patients absorb 15% to 60% of ingested sitosterol without excreting much into the bile. It's named after the most abundant phytosterol in the diet, sitosterol, though other phytosterols are also involved. The phytosterol campesterol is more readily absorbed than sitos

metabolic pathway for the catabolism of D-galactose

carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids

amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues

human disease

Human disease