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*  Leukodystrophy, Krabbe's - NORD (National Organization for Rare Disorders)
New prospects for the treatment of lysosomal storage diseases. Drugs. 2002;62:733-42. ... Krabbe's Leukodystrophy is a rare inherited lipid storage disorder caused by a deficiency of the enzyme galactocerebrosidase ( ...
https://rarediseases.org/rare-diseases/leukodystrophy-krabbes/
*  Lysosomal Storage Disorders - NORD (National Organization for Rare Disorders)
The orphan drug alglucerase injection (Ceredase), which is a placenta-derived enzyme, was approved by the U.S. Food and Drug ... That is why these diseases are called "storage diseases". The symptoms of lysosomal storage disorders are generally progressive ... Prenatal diagnosis is possible for all lysosomal storage disorders. Early detection of lysosomal storage diseases, whether ... leading to the inappropriate storage of material in various cells of the body. Most lysosomal storage disorders are inherited ...
https://rarediseases.org/rare-diseases/lysosomal-storage-disorders/
*  Glycogen Storage Disease Type I - NORD (National Organization for Rare Disorders)
Allopurinol, a drug capable of reducing the level of uric acid in the blood, may be useful to control the symptoms of gout-like ... Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder. Glycogen storage disease type I (GSDI ... Guidelines for management of glycogen storage disease type I-European study on glycogen storage disease type I (ESGSD I). Eur J ... Subdivisions of Glycogen Storage Disease Type I. *glycogen storage disease type IA ...
https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-i/
*  Glycogen Storage Disease Type IX - NORD (National Organization for Rare Disorders)
Vigorous exercise should be avoided and drugs that can damage muscle tissue (such as statins) should be taken after ... Subdivisions of Glycogen Storage Disease Type IX. *glycogen storage disease type Ixa ... Glycogen storage disease type IX is caused by mutations in the PHKA1, the PHKA2, the PHKB, or the PHKG2 gene. Genes provide ... Glycogen Storage Disease Type IXa. GSD-IXa is the most common subtype of GSD IX, and is caused by the deficiency of ...
https://rarediseases.org/rare-diseases/glycogen-storage-disease-type-ix/
*  Acquired Lipodystrophy - NORD (National Organization for Rare Disorders)
Although drug therapy is commonly used, there have been no clinical trials to establish the optimal use of drug therapy to ... Damage to adipose tissue in acquired lipodystrophy prevents proper fat storage. Consequently, fat is lost from adipose tissue ... An analog drug has the same or similar physical structure to another drug or chemical, but differs chemically. Severe ... However drug related risks, cost and benefits should be carefully weighed prior to considering the treatment. Metreleptin ...
https://rarediseases.org/rare-diseases/acquired-lipodystrophy/
*  Acanthosis Nigricans - NORD (National Organization for Rare Disorders)
Certain drugs such as human growth hormone or oral contraceptives can be a cause. Lymphoma or cancers of the gastrointestinal ... levels by promoting the movement of glucose into cells for energy production or into the liver and fat cells for energy storage ... For further information on drug-induced AN, please see the "Causes" section below. ... drug-induced AN). In other instances, AN may occur in association with an underlying cancerous tumor (i.e., malignant AN). ...
https://rarediseases.org/rare-diseases/acanthosis-nigricans/
*  Gaucher Disease - NORD (National Organization for Rare Disorders)
Drug Design, Development and Therapy 2012; 6: 81-106.. 16. Mengel E, Arnoff J, Reinke J, Beck M. Long term follow up of the ... Gaucher disease is a lipid storage disease caused by an enzyme deficiency that results in excess glycolipid glucocerebroside ... In 2014, the FDA approved Cerdelga (eliglustat) for the long-term treatment of adults with Gaucher disease type 1. This drug is ... Gaucher disease is categorized as a lysosomal storage disorder. Lysosomes are the major digestive units in cells containing ...
https://rarediseases.org/physician-guide/gaucher-disease/
*  Severe Chronic Neutropenia - NORD (National Organization for Rare Disorders)
Neutropenia may result from viral infection, due to use of certain drugs, and/or following exposure to certain poisons. In ... rarely Wiscott-Aldrich syndrome and glycogen storage disease Type 1b. ... Some affected individuals may benefit from therapy with specific glucocorticoids, anti-inflammatory drugs that suppress the ...
https://rarediseases.org/rare-diseases/severe-chronic-neutropenia/
*  Wolman Disease - NORD (National Organization for Rare Disorders)
Cholesteryl ester storage disease (CESD) is a type of lysosomal acid lipase (LAL) deficiency; a rare genetic disorder ... In December 2015, the U.S. Food and Drug Administration (FDA) approved Kanuma (sebelipase alfa) as the first treatment for ... For more information on this disorder, choose "cholesteryl ester storage disease" as your search term in the Rare Disease ... Gene therapy is also being studied as another possible approach to therapy for some lysosomal storage disorders. In gene ...
https://rarediseases.org/rare-diseases/wolman-disease/
*  Juvenile CLN3 Disease - NORD (National Organization for Rare Disorders)
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic ... In some cases, treatment with anticonvulsant drugs such as valproate and lamotrigine may help prevent, reduce, or control ... New lysosomal storage disorders continue to be identified. While clinical trials are in progress on possible treatments for ... some of these diseases, there is currently no approved treatment for many lysosomal storage diseases. (For more information on ...
https://rarediseases.org/rare-diseases/batten-disease/
*  Juvenile Hemochromatosis - NORD (National Organization for Rare Disorders)
... drugs that help remove salt and water from the body (diuretics [water pills]), and drugs called glycosides that are commonly ... During a liver biopsy, samples of liver tissue are removed and microscopically examined to detect increased iron storage and ... Iron chelators are drugs that bind to the excess iron in the body allowing it to be dissolved in water and excreted from the ... may help to prevent permanent organ damage and potentially life-threatening complications resulting from excessive iron storage ...
https://rarediseases.org/rare-diseases/juvenile-hemochromatosis/
*  Congenital Lactic Acidosis - NORD (National Organization for Rare Disorders)
In addition, the drug has been shown to worsen or to cause reversible peripheral nerve damage in some individuals with ... certain types of glycogen storage disease, Reye syndrome, short-bowel syndrome, liver failure, a defect in the heart or blood ... Various studies have shown the drug to be well-tolerated in children and to lead to a reduction in lactic acid levels in many ...
https://rarediseases.org/rare-diseases/congenital-lactic-acidosis/
*  Ichthyosis - NORD (National Organization for Rare Disorders)
Chanarin-Dorfman syndrome (neutral lipid storage disease). *CHILD syndrome (unilateral hemidysplasia). *congenital ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ...
https://rarediseases.org/rare-diseases/ichthyosis/
*  Fucosidosis - NORD (National Organization for Rare Disorders)
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic ... New lysosomal storage disorders continue to be identified. While clinical trials are in progress on possible treatments for ... As a group, the lysosomal storage diseases are believed to have an estimated frequency of about one in every 5,000 live births. ... The disorder belongs to a group of diseases known as lysosomal storage disorders. Low levels or inactivity of the alpha- ...
https://rarediseases.org/rare-diseases/fucosidosis/
*  Keratomalacia - NORD (National Organization for Rare Disorders)
In addition, in cases in which keratomalacia occurs secondary to impaired vitamin A absorption, storage, or transport, ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ... Impaired storage or absorption of vitamin A may also be associated with infection of the small intestine (giardiasis); partial ... storage, or transport of vitamin A, such as celiac disease, ulcerative colitis, cystic fibrosis, liver disease, or intestinal ...
https://rarediseases.org/rare-diseases/keratomalacia/
*  Measles - NORD (National Organization for Rare Disorders)
... perhaps as a result of inadvertent inactivation due to improper storage. Presumably, inactivated measles virus vaccines do not ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ...
https://rarediseases.org/rare-diseases/measles/
*  Rickets, Vitamin D Deficiency - NORD (National Organization for Rare Disorders)
... galactosemia and glycogen storage disorders. (For more information on this disorder choose "Fanconi" as your search term in the ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ...
https://rarediseases.org/rare-diseases/rickets-vitamin-d-deficiency/
*  Biotinidase deficiency - NORD (National Organization for Rare Disorders)
Markedly elevated serum biotinidase activity may indicate glycogen storage disease type Ia. J Inherit Metab Dis. 2003;26:805-09 ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ...
https://rarediseases.org/rare-diseases/biotinidase-deficiency/
*  Glanzmann Thrombasthenia - NORD (National Organization for Rare Disorders)
Storage pool disease (SPD) is a rare inherited disorder of blood platelets characterized by clotting dysfunction due to the ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ... People with some forms of storage pool disease may also have abnormally low levels of blood platelets (thrombocytopenia). ...
https://rarediseases.org/rare-diseases/glanzmann-thrombasthenia/
*  Congenital Fiber Type Disproportion - NORD (National Organization for Rare Disorders)
A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy. Neuromuscul Disord. 2011;21(4):254 ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ...
https://rarediseases.org/rare-diseases/congenital-fiber-type-disproportion/
*  You searched for C - NORD (National Organization for Rare Disorders)
Cholesteryl Ester Storage Disease Chondrocalcinosis 2 Chordoma Choroideremia Choroiditis, Serpiginous Chromosome 10, Distal ... 5 Myths About Orphan Drugs and the Orphan Drug Act. * Close. *Get Involved*Donate Now*Give ...
https://rarediseases.org/?s=C&post_type=rare-diseases