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Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
Terminal complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC). It involves deficiencies of C5, C6, C7, and C8. (While C9 is part of the MAC, and deficiencies have been identified, [1] it is not required for cell lysis. [2]) People with this condition are prone to meningococcal infection. [3]
Pentadecylic acid, also known as pentadecanoic acid or C15:0, is an odd-chain saturated fatty acid. Its molecular formula is CH 3 (CH 2) 13 CO 2 H. It is a colorless solid. A laboratory preparation involves permanganate oxidation of 1-hexadecene (CH 3 (CH 2) 13 CH=CH 2). [2] It is one of the most common odd-chain fatty acids, although it is ...
Caspase-8 deficiency (CEDS) is a very rare genetic disorder of the immune system.It is caused by mutations in the CASP8 gene that encodes the protein caspase-8.The disorder is characterized by splenomegaly and lymphadenopathy, in addition to recurrent sinopulmonary infections, recurrent mucocutaneous herpesvirus or other viral infections, and hypogammaglobulinemia. [1]
Over time, however, the deficiency commonly progresses to include thrombocytopenia, increases susceptibility to infections due to, e.g. atypical mycobacteria or human papillomavirus, dysfunction of non-hematological organs, the myelodysplastic syndrome, and/or a leukemia, particularly acute myelogenous leukemia.
Guanidinoacetate methyltransferase deficiency (GAMT deficiency) is an autosomal recessive [1] cerebral creatine deficiency that primarily affects the nervous system and muscles. It is the first described disorder of creatine metabolism, [ 2 ] and results from deficient activity of guanidinoacetate methyltransferase , an enzyme involved in the ...
The Mayo Clinic diet, a program that adheres to this notion, was developed by medical professionals based on scientific research, so you can trust that this program is based on science, and not ...
Conradi–Hünermann syndrome is a form of chondrodysplasia punctata, a group of rare genetic disorders of skeletal development involving abnormal accumulations of calcium salts within the growing ends of long bones. Conradi–Hünermann syndrome is commonly associated with mild to moderate growth deficiency, disproportionate shortening of long ...