From Wikipedia, the free encyclopedia
Wolman disease (also known as Wolman’s disease, Wolman’s syndrom, and acid lipase deficiency) is a rare severe lipid storage disease that is usually fatal at a very young age.[1]
Both males and females are affected by this severe disorder.
[edit] Causes
This autosomal recessive disorder is marked by accumulation of cholesteryl esters (normally a transport form of cholesterol) and triglycerides (a chemical form in which fats exist in the body) that can build up significantly and cause damage in the cells and tissues.
[edit] Presentation
Infants are normal and active at birth but quickly develop progressive mental deterioration, hepatosplenomegaly (enlarged liver and grossly enlarged spleen), distended abdomen, gastrointestinal problems including steatorrhea (excessive amounts of fats in the stools), jaundice, anemia, vomiting and calcium deposits in the adrenal glands, causing them to harden.
[edit] Prognosis
There is no specific treatment for Wolman disease. Patients with anemia may require blood transfusions. In some patients, the enlarged spleen must be removed to improve cardiopulmonary function. Restricting one’s diet does not prevent lipid buildup in cells and tissues.
[edit] Eponym
Wolman disease is named after Moshe Wolman.[2]
[edit] References
- ^ Chorus 00425
- ^ synd/3122 at Who Named It
|
Metabolic pathology (E70-90) |
| Amino acid |
Phenylketonuria - Alkaptonuria - Ochronosis - Tyrosinemia - Maple syrup urine disease - Propionic acidemia - Methylmalonic acidemia - Isovaleric acidemia - Primary carnitine deficiency - Cystinuria - Cystinosis - Hartnup disease - Homocystinuria - Citrullinemia - Hyperammonemia - Glutaric acidemia type 1 |
| Carbohydrate |
Lactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI), Fructose intolerance, Galactosemia |
| Lipid |
Lipid storage disorders Sphingolipidoses: Gangliosidosis - GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia |
| Mineral |
Cu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism |
| Fluid, electrolyte and acid-base balance |
Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia |
| Porphyrin and bilirubin |
Acatalasia - Gilbert's syndrome - Crigler-Najjar syndrome - Dubin-Johnson syndrome - Rotor syndrome - Porphyria (Acute intermittent porphyria, Gunther's disease, Porphyria cutanea tarda, Erythropoietic protoporphyria, Hepatoerythropoietic porphyria, Hereditary coproporphyria, Variegate porphyria) |
| Glycosaminoglycan |
Mucopolysaccharidosis - Hurler syndrome - Hunter syndrome - Sanfilippo syndrome - Morquio syndrome |
| Glycoprotein |
I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis |
| Other |
Alpha 1-antitrypsin deficiency - Cystic fibrosis - Familial Mediterranean fever - Lesch-Nyhan syndrome |
