Diseases

Multiple carboxylase deficiency- biotin responsive

Multiple carboxylase deficiency (MCD) results from a decreased activity of holocarboxylase synthetase (HCS) which is responsible for the biotinylation of the four biotin-dependent carboxylases found in humans. The disease can be treated with pharmacologic doses of oral biotin (biotin-responsiveness). The cDNA for HCS contains a biotin-binding domain deduced by analogy with the sequence and crystal structure of the E. coli BirA biotin ligase. E. coli birA$ sp-$ mutations causing biotin-auxotrophy all localize to this region. Of six point mutations I have identified in MCD patients, four localize to the biotin-binding region. In order to assess the HCS activity associated with patient mutations, I used an assay based on the expression of mutant HCS in E. coli. The method is based on the ability of mutant HCS to biotinylate the biotin carboxyl carrier protein (BCCP) of acetyl-CoA carboxylase in a temperature-sensitive birA$ sp-$ E. coli strain using 3H-biotin as tracer. I have shown that all of the mutations cause a severe decrease in HCS activity. In addition, I have shown that five of the mutant HCS are biotin-responsive. These findings are a major contribution to the understanding of the mechanism of biotin-responsiveness.

Multiple carboxylase deficiency- late onset

Biotinidase deficiency is an autosomal recessive metabolic disorder in which the body is not able to process the nutrient biotin properly. Biotin, sometimes called vitamin H, is an important water-soluble nutrient that aids in the metabolism of fats, carbohydrates and proteins. Biotin Deficiency can result in behavioral disorders, lack of coordination, learning disabilities and seizure. Biotin supplementation can alleviate and sometimes totally arrest such symptoms

Multiple carboxylase deficiency- propionic acidemia

A disorder of fat metabolism where the body is unable to convert fat to energy due to the lack of a number of enzymes (carboxylases). Sufferers need to eat regularly to prevent symptoms. Symptoms are determined by the size and exact location of the tumor.

Multiple congenital contractures

Congenital contractures: A muscle condition present from birth where the muscles are abnormally contracted or short. One or more muscles may be involved and the degree of involvement of the individual muscle may vary.

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2 is a group of medical disorders associated with tumors of the endocrine system. The tumors may be benign or malignant (cancer). They generally occur in endocrine organs (e.g. thyroid, parathyroid, and adrenals), but may also occur in endocrine tissues of organs not classically thought of as endocrine.

Multiple endocrine neoplasia- type 2B

Multiple endocrine neoplasia (MEN) syndromes are mostly inherited conditions in which several endocrine glands develop benign (non-cancerous) or malignant (cancerous) tumours or hyperplasia (grow excessively without forming tumours). There are 2 main types of MEN, MEN type 1 and MEN type 2. MEN type 2 is further split into 3 subtypes: * MEN type 2A * FMTC (familial medullary thyroid carcinoma) * MEN type 2B (formerly known as MEN type 3). Multiple endocrine neoplasia type 2B disease has additional features including mucosal neuromas (nerve tumours on the mucous membranes), neuromas in the gut that lead to gastrointestinal abnormalities, and striking facial appearance associated with Marfanoid habitus (slender, tall, long fingers & toes, and high arched palate). These features may be the first sign of an internal malignancy and should prompt further investigation.

Multiple myeloma

Multiple myeloma is a cancer of plasma cells, a type of white blood cell normally responsible for producing antibodies. In multiple myeloma, collections of abnormal plasma cells accumulate in the bone marrow, where they interfere with the production of normal blood cells. Most cases of multiple myeloma also feature the production of a paraprotein—an abnormal antibody which can cause kidney problems. Bone lesions and hypercalcemia (high blood calcium levels) are also often encountered.

Multiple myeloma is diagnosed with blood tests (serum protein electrophoresis, serum free kappa/lambda light chain assay), bone marrow examination, urine protein electrophoresis, and X-rays of commonly involved bones.

Multiple myeloma is considered to be incurable but treatable. Remissions may be induced with steroids, chemotherapy, proteasome inhibitors, immunomodulatory drugs such as thalidomide or lenalidomide, and stem cell transplants. Radiation therapy is sometimes used to reduce pain from bone lesions.

Multiple pterygium syndrome

A very rare disorder characterized by webbing of various parts of the body, contractures, short stature, fusion of neck vertebrae and facial anomalies.

Multiple sclerosis

Multiple sclerosis (abbreviated MS, also known as disseminated sclerosis or encephalomyelitis disseminata) is a disease in which the fatty myelin sheaths around the axons of the brain and spinal cord are damaged, leading to demyelination and scarring as well as a broad spectrum of signs and symptoms. Disease onset usually occurs in young adults, and it is more common in females

Multiple sulfatase deficiency

Multiple sulfatase deficiency (also known as "Austin disease," and "Mucosulfatidosis") is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes, or in formylglycine-generating enzyme, which activates sulfatases. It is similar to mucopolysaccharidosis.

Multiple synostoses syndrome 1

A rare genetic disorder characterized by deafness, distinctive facial features and fusion of various bones in the fingers, toes and upper arms.

Multiple synostoses syndrome 2

A rare disorder characterized by multiple fusions involving various bones in the body such as the fingers, toes and elbow.

Multiple system atrophy

Multiple system atrophy (MSA) is a degenerative neurological disorder. MSA is associated with the degeneration of nerve cells in specific areas of the brain. This cell degeneration causes problems with movement, balance, and autonomic functions of the body such as bladder control or blood-pressure regulation. The cause of MSA is not conclusively known and no specific risk factors have been identified, although research indicates that a prion form of the alpha-synuclein protein may be the cause of the disease. Around 55% of cases occur in men, with typical age of onset in the late 50s to early 60s. MSA often presents with some of the same symptoms as Parkinson’s disease. However, MSA patients generally show minimal if any response to the dopamine medications used for Parkinson’s. MSA is distinct from the more common syndrome multisystem proteinopathy. It should also not be confused with the two terms multiple organ dysfunction syndrome or multiple organ system dysfunction syndrome, which are the more modern and accurate terms for multiple organ failure or multiple organ system failure, which is an often-fatal complication of septic shock (due to severe sepsis, a systemic infection that has spread to the bloodstream) or other very severe illnesses or injuries.

Mumps

Mumps is an acute viral illness that causes painful enlargement of the parotid glands. These glands are located in front and below the ears and produce saliva or spit.

Munchausen by proxy syndrome

Munchausen syndrome by proxy is a form of child abuse in which a parent induces real or apparent symptoms of a disease in a child.

MURCS association

MURCS association is a very rare developmental disorder that affects only females. The acronym MURCS stands for (MU)llerian, (R)enal, (C)ervicothoracic (S)omite abnormalities. This rare disorder is characterized by the absence of the uterus, cervix, and upper part of the vagina (mullerian aplasia); kidney (renal) abnormalities, including absent (agenic) and/or improperly positioned (ectopic) kidneys; and/or malformations of the spinal column, ribs, and/or arms.

Muscle eye brain disease

A genetic disease characterized by muscle weakness, congenital brain abnormalities and eye problems as well as other defects

Muscle-Invasive Urothelial Carcinoma

Muscle invasive bladder cancer (MIBC) is a cancer that spreads into the detrusor muscle of the bladder. The detrusor muscle is the thick muscle deep in the bladder wall. This cancer is more likely to spread to other parts of the body.

In the U.S., bladder cancer is the third most common cancer in men. Each year, there are more than 83,000 new cases diagnosed in men and women. About 25% of bladder cancers are MIBC. Bladder cancer is more common as a person grows older. It is found most often in the age group of 75-84. Caucasians are more likely to get bladder cancer than any other ethnicity. But there are more African-Americans who do not survive the disease.

Muscular dystrophy

Muscular dystrophy (MD) refers to a group of genetic, hereditary muscle diseases that cause progressive muscle weakness. Muscular dystrophies are characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the death of muscle cells and tissue. Nine diseases including Duchenne, Becker, limb girdle, congenital, facioscapulohumeral, myotonic, oculopharyngeal, distal, and Emery-Dreifuss are always classified as muscular dystrophy but there are more than 100 diseases in total with similarities to muscular dystrophy. Most types of MD are multi-system disorders with manifestations in body systems including the heart, gastrointestinal and nervous systems, endocrine glands, skin, eyes and other organs

Muscular Dystrophy – Late Onset

Muscle weakness and wasting that occurs later in life. The severity is variable with severe cases involving wheelchair confinement and death can occur if the heart muscle becomes involved. Progression may be slow or rapid. Slow progressing cases can result in a normal life span.