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Wolman disease Classification & external resources
Wolman disease (also known as Wolman's disease, Wolman's syndrome, and acid lipase deficiency) is a rare lipid storage disease that is usually fatal at a very young age.
Additional recommended knowledge
Inheritance and Diagnosis
Wolman disease 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.
Infants may be 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.
In the past, there has been no specific treatment for Wolman disease, although a single case patient has seen a complete, sustained remission after a bone marrow transplant, and if the results can be duplicated, this approach may become standard in the future.
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.
Wolman disease is named after Moshe Wolman.
^ 00425 at CHORUS ^ synd/3122 at Who Named It
Metabolic pathology / Inborn error of metabolism ( E70-90, 270-279) Amino acid Aromatic ( Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - ( Organic acidemias Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport ( Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome, Oculocerebrorenal syndrome) - Sulfur ( Homocystinuria, Cystathioninuria) - ( Urea cycle disorder N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Hyperprolinemia - Sarcosinemia Carbohydrate Lactose intolerance - Glycogen storage disease ( type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism ( Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption ( Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA) -
Pentosuria - Renal glycosuria Lipid storage Sphingolipidoses/ Gangliosidoses: 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) Fatty acid metabolism Lipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Acyl-coA dehydrogenase (Short-chain, Medium-chain, Long-chain 3-hydroxy, Very long-chain) - ( Carnitine Primary, I, II) Mineral Cu Wilson's disease/ Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO Hypophosphatemia/ 4 3− Hypophosphatasia - Mg 2+ Hypermagnesemia/ Hypomagnesemia - Ca 2+ 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 - H 2O Dehydration/ Hypervolemia - K + Hypokalemia/ Hyperkalemia - Cl Hyperchloremia/Hypochloremia − Purine and pyrimidine Hyperuricemia - Lesch-Nyhan syndrome - Xanthinuria Porphyrin Acute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate Bilirubin Unconjugated ( Lucey-Driscoll syndrome, Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome) Glycosaminoglycan Mucopolysaccharidosis - 1:Hurler/ Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly Glycoprotein Mucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis Other Alpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis ( Familial Mediterranean fever) - Acatalasia