Carnitine palmitoyltransferase I deficiency is a rare metabolic disorder that prevents the body from converting certain fats called long-chain fatty acids into energy particularly during periods without food. Carnitine a […]
List of articles in "Disease" category - Page 398
Sandhoff disease
Sandhoff disease also known as Sandhoff-Jatzkewitz disease variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency is a lysosomal genetic lipid storage disorder caused by the inherited deficiency to […]
Macroorchidism
Macroorchidism is a genetic disorder found in males where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome which is also the […]
Cytomegalovirus retinitis
Cytomegalovirus retinitis also known as CMV retinitis is an inflammation of the retina of the eye that can lead to blindness. Caused by human cytomegalovirus it occurs predominantly in people […]
Photodermatosis
Photodermatosis is a skin disease that is caused by exposure to sunlight.People with photodermatosis may develop skin rashes following exposure to the sun. Polymorphous Light Eruption is the most common […]
X-linked agammaglobulinemia
X-linked agammaglobulinemia (also called X-linked hypogammaglobulinemia XLA Bruton type agammaglobulinemia Bruton syndrome or Sex-linked agammaglobulinemia) is a rare X-linked genetic disorder discovered in 1952 that affects the body’s ability to […]
Fungemia
Fungemia (Fungaemia in the UK and other Commonwealth countries) is the presence of fungi or yeasts in the blood. The most common type also known as Candidemia Candedemia or Invasive […]
Intestinal neuronal dysplasia
Intestinal neuronal dysplasia (or neuronal intestinal dysplasia or NID) is an inherited disease of the intestine that affects one in 3000 children and adults.
Glutaric aciduria type 1
Glutaric acidemia type 1 (or Glutaric Aciduria GA1 or GAT1) is an inherited disorder in which the body is unable to break down completely the amino acids lysine hydroxylysine and […]
Paragonimiasis
Paragonimiasis is a food-borne parasitic infection caused by the lung fluke most commonly Paragonimus westermani. It infects an estimated 22 million people worldwide. It is particularly common in East Asia. […]