Arterial chemotherapy infusion of the liver and chemoembolization of the liver (transarterial chemoembolization or TACE) are similar procedures that are used for the treatment of cancers in the liver. In both procedures, chemotherapy is injected i...

Cutis laxa is rarely encountered and may occur in several inherited (congenital) forms or come about in the course of another disorder (acquired). It is a connective tissue disorder characterized by skin that is loose (lax), hanging, wrinkled, and...

Cystinuria facts Cystinuria is a relatively common inherited disorder. The disorder is due to a defect in the transport of amino acids including one called cystine. Cystinuria features too much cystine in the uri...

Frontotemporal dementia (FTD), or Pick's disease, is a syndrome featuring shrinking of the frontal and temporal anterior lobes of the brain. The symptoms of frontotemporal dementia fall into two clinical patterns that involve either...

  Frontotemporal dementia (FTD), or Pick's disease, is a syndrome featuring shrinking of the frontal and temporal anterior lobes of the brain. The symptoms of frontotemporal dementia fall into two clinical patterns th...

Congenital erythropoietic porphyria (CEP) is a very rare inherited metabolic disorder resulting from the deficient function of the enzyme uroporphyrinogen lll cosynthase (UROS), the fourth enzyme in the heme biosynthetic pathway. Due to the impair...

Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). These skin changes may present as patches, streaks or spiral-shaped (whorled) areas. In many cases, ...

Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of...

The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. H...

The Mucopolysaccharidoses (MPS Disorders) are a group of rare genetic disorders caused by the deficiency of one of the lysosomal enzymes, resulting in an inability to metabolize complex carbohydrates (mucopolysaccharides) into simpler molecules. H...

Frontotemporal dementia (FTD), or Pick's disease, is a syndrome featuring shrinking of the frontal and temporal anterior lobes of the brain. The symptoms of frontotemporal dementia fall into two clinical patterns that involve either...

Polycystic ovary syndrome  Polycystic ovary syndrome is a disorder involving infrequent, irregular or prolonged menstrual periods, and often excess male hormone (androgen) levels. The ovaries develop numerous small collections of flui...

Adenylosuccinate lyase deficiency (ASLD) is a rare, inherited metabolic disorder due to a lack of the enzyme adenylosuccinate lyase (ASL). The defect is characterized by the appearance of two unusual chemicals, succinylaminoimidazole carboxamide r...

In ichthyosis vulgaris, the skin cells are produced at a normal rate, but they do not shed normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. The result is a build-up of scale. F...