NationMaster - Encyclopedia: Krabbe disease

Krabbe disease (also known as globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare, often fatal degenerative disorder that affects the nervous system. This condition is inherited in an autosomal recessive pattern. The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following codes are used with International Statistical Classification of Diseases and Related Health Problems. ... // E00-E35 - Endocrine diseases (E00-E07) Disorders of thyroid gland (E00) Congenital iodine-deficiency syndrome (E01) Iodine-deficiency-related thyroid disorders and allied conditions (E02) Subclinical iodine-deficiency hypothyroidism (E03) Other hypothyroidism (E030) Congenital hypothyroidism with diffuse goitre (E031) Congenital hypothyroidism without goitre (E032) Hypothyroidism due to medicaments and other... The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD) provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances and external causes of injury or disease. ... The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The Disease Bold textDatabase is a free website that provides information about the relationships between medical conditions, symptoms, and medications. ... eMedicine is an online clinical medical knowledge base that was founded in 1996. ... Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. ... The Human Nervous System The nervous system of an animal coordinates the activity of the muscles, monitors the organs, constructs and also stops input from the senses, and initiates actions. ... In genetics, the term recessive gene refers to an allele that causes a phenotype (visible or detectable characteristic) that is only seen in a homozygous genotype (an organism that has two copies of the same allele). ...

Incidence

Worldwide, Krabbe disease occurs in about 1 in 100,000–200,000 births. A higher incidence (6 cases per 1,000 live births) has been reported in a few isolated communities in Israel.

Causes

Krabbe disease is caused by mutations in the GALC gene, which causes a deficiency of an enzyme called galactosylceramidase. The buildup of undigested fats affects the growth of the nerve’s protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of mental and motor skills. As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin. It has been suggested that mutant be merged into this article or section. ... Galactosylceramidase is an enzyme which removes galactose from ceramide derivatives. ... For other meanings of this term, see gene (disambiguation). ... Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... Nerves (yellow) Nerves redirects here. ... Leukodystrophy refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber. ...

Presentation

Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers, limb stiffness, seizures, feeding difficulties, vomiting, and slowing of mental and motor development. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression. An analogue medical thermometer showing the temperature of 38. ... Seizures are temporary abnormal electro-physiologic phenomena of the brain, resulting in abnormal synchronization of electrical neuronal activity. ... Vomiting (or emesis) is the forceful expulsion of the contents of ones stomach through the mouth. ...

Diagnosis

The disease may be diagnosed by its characteristic grouping of certain cells, nerve demyelination and degeneration, and destruction of brain cells.

Treatment

Although there is no cure for Krabbe disease, bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive. Physical therapy may help maintain or increase muscle tone and circulation. A recent study in the New England Journal of Medicine reports that cord blood transplants have been successful in stopping the disease as long as they are given before overt symptoms appear. ^[1] Grays Anatomy illustration of cells in bone marrow. ... An organ transplant is the transplantation of an organ (or part of one) from one body to another, for the purpose of replacing the recipients damaged or failing organ with a working one from the donor. ... Physical therapy (or physiotherapy[1]) is the provision of services to people and populations to develop, maintain and restore maximum movement and functional ability throughout the lifespan. ... A top-down view of skeletal muscle Muscle (from Latin musculus little mouse [1]) is contractile tissue of the body and is derived from the mesodermal layer of embryonic germ cells. ... The New England Journal of Medicine (NEJM) is a peer-reviewed medical journal published by the Massachusetts Medical Society with the highest impact factor for a general medical journal. ... Umbilical cord blood is human blood from the placenta and umbilical cord that is rich in hematopoietic stem cells. ...

Prognosis

In infants, the disease is generally fatal before age 2. Patients with a later onset form of the disease have a milder course of the disease and live significantly longer.

Advocacy

Former Buffalo Bills quarterback Jim Kelly has been a leader in gaining recognition and research funding for the disease, following the diagnosis of his son, Hunter, with Krabbe disease in 1997. Hunter Kelly died of the disease August 5, 2005 at the age of 8. He was the longest known living survivor of infantile Krabbe disease. City Orchard Park, New York Team colors Dark Navy, light blue, Red, light Red, Royal, Nickel, and White Head Coach Dick Jauron Owner Ralph C. Wilson Jr. ... James Edward Kelly (born February 14, 1960 in Pittsburgh, Pennsylvania) was an American football quarterback for the Buffalo Bills. ... August 5 is the 217th day of the year in the Gregorian Calendar (218th in leap years), with 148 days remaining. ... 2005 (MMV) was a common year starting on Saturday of the Gregorian calendar. ...

Wikipedia links

The Myelin Project is a medical project intended to re-generate the nerves myelin sheath, â€” a process called remyelination â€” destroyed in a host of diseases such as multiple sclerosis and the leukodystrophies. ... The Stennis Foundation is a registered nonprofit organization, in accordance with IRS code, section 501(c)(3). ...

Notes

External links

Categories: Leukodystrophies | Eponymous diseases | Rare diseases | Inborn errors of metabolism | Lysosomal storage diseases Hypercholesterolemia (literally: high blood cholesterol) is the presence of high levels of cholesterol in the blood. ... Hypercholesterolemia (literally: high blood cholesterol) is the presence of high levels of cholesterol in the blood [1]. It is not a disease but a metabolic derangement that can be secondary to many diseases and can contribute to many forms of disease, most notably cardiovascular disease. ... In medicine, familial hypercholesterolemia is a rare disease characterised by very high LDL cholesterol and early cardiovascular disease running in families. ... A xanthoma is a deposition of cholesterol-rich material in tendons and other body parts in various disease states: Tendon xanthomas (associated with familial hypercholesterolemia, cerebrotendineous xanthomatosis and phytosterolemia) Palmar xanthomas Eruptive xanthomas See also xanthelasma Categories: Stub | Sign (medicine) ... In medicine, combined hyperlipidemia (or -aemia) is a commonly occurring form of hypercholesterolemia (elevated cholesterol levels) characterised by increased LDL and triglyceride concentrations, often accompanied by decreased HDL. On lipoprotein electrophoresis (a test now rarely performed) is shows as a hyperlipoproteinemia type IIB. The elevated triglyceride levels (>5 mmol/l... Lecithin cholesterol acyltransferase deficiency (LCAT deficiency) is a disorder of lipoprotein metabolism. ... Tangier disease is a rare inherited disorder characterized by a severe reduction in the amount of high density lipoprotein (HDL), often referred to as good cholesterol, in the bloodstream. ... Abetalipoproteinemia is a rare genetic disorder (autosomal recessive) that interferes with the normal absorption of fat and fat soluble vitamins from food. ... Minerals are natural compounds formed through geological processes. ... Wilsons disease or hepatolenticular degeneration is an autosomal recessive hereditary disease, with an incidence of about 1 in 30,000 in most parts of the world and a male preponderance. ... Menkes disease, also called the kinky hair disease or Menkes kinky hair syndrome, is a disease of abnormal copper metabolism. ... Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... Acrodermatitis enteropathica is an autosomal recessive disorder characterized by periorificial (around the natural orifices) and acral (in the limbs) dermatitis, alopecia (loss of hair), and diarrhea. ... Hypophosphatemia is an electrolyte disturbance in which there is an abnormally depleted level of phosphate in the blood. ... Hypophosphatasia is a rare inherited metabolic disease of decreased tissue nonspecific alkaline phosphatase (TNSALP) and defective bone mineralization. ... Hypermagnesemia is an electrolyte disturbance in which there is an abnormally elevated level of magnesium in the blood. ... Hypomagnesemia is an electrolyte disturbance in which there is an abnormally low level of magnesium in the blood. ... Hypercalcaemia (or Hypercalcemia) is an elevated calcium level in the blood. ... In medicine, hypocalcaemia is the presence of low serum calcium levels in the blood, usually taken as less than 2. ... Disorders of calcium metabolism occur when the body has too little or too much calcium. ... An electrolyte is a substance containing free ions which behaves as an electrically conductive medium. ... The text or formatting below is generated by a template which has been proposed for deletion. ... Electrolyte disturbance refers to an abnormal change in the levels of electrolytes in the body. ... Hypernatremia is an electrolyte disturbance consisting of an elevated sodium level in the blood (compare to hyponatremia, meaning a low sodium level). ... The electrolyte disturbance hyponatremia or hyponatraemia exists in humans when the sodium level in the plasma falls below 135 mmol/l. ... Acidosis is an increased acidity (i. ... In medicine, metabolic acidosis is a state in which the blood pH is low (under 7. ... Respiratory acidosis is acidosis (abnormal acidity of the blood) due to decreased ventilation of the pulmonary alveoli, leading to elevated arterial carbon dioxide concentration. ... Lactic acidosis is a condition caused by the buildup of lactic acid in the body. ... Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma. ... Metabolic alkalosis results from altered metabolism. ... Alkalosis refers to a condition reducing hydrogen ion concentration of arterial blood plasma. ... In a Mixed disorder of acid-base balance more than one of the following is occurring in the patient at the same time: acidosis metabolic acidosis respiratory acidosis alkalosis metabolic alkalosis respiratory alkalosis The patient can have an acidosis and alkosis at the same time that partially counteract each other... Dehydration (hypohydration) is the removal of water (hydro in ancient Greek) from an object. ... 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The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Hepatoerythropoietic porphyria is a very rare form of hepatic porphyria caused by a disorder in the gene which codes Uroporphyrinogen III decarboxylase (UROD). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... The porphyrias are inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). ... Glycosaminoglycans (GAGs) are long unbranched polysaccharides, made up of repeating disaccharides that may be sulphated (e. ... The mucopolysaccharidoses are inborn errors of metabolism resulting from the deficiency of specific lysosomal enzymes needed in glycosaminoglycan catabolism. ... 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Aspartylglucosaminuria is a glycoprotein metabolism disorder caused by a lack of aspartylglucosaminidase (AGA). ... Fucosidosis is an autosomal recessive disease in which fucosidase is not properly used in the cells to break fucose. ... α-mannosidosis is a genetic disorder that causes progressive mental and physical deterioration. ... Categories: Possible copyright violations ... Alpha 1-antitrypsin deficiency (A1AD or Alpha-1) is a genetic disorder caused by defective production of alpha 1-antitrypsin, deficient activity in the blood and lungs, and deposition of excessive amounts of abnormal A1AT protein in liver cells. ... Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder that affects groups of patients originating from around the Mediterranean Sea (hence its name). ... Lesch-Nyhan syndrome (LNS) is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). ...

Contents

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