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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]
Brunner syndrome is a rare genetic disorder associated with a mutation in the MAOA gene. It is characterized by lower than average IQ (typically about 85), problematic impulsive behavior (such as pyromania , hypersexuality and violence), sleep disorders and mood swings.
Empathy gaps may occur due to a failure in the process of empathizing [1] or as a consequence of stable personality characteristics, [2] [3] [4] and may reflect either a lack of ability or motivation to empathize. Empathy gaps can be interpersonal (toward others) or intrapersonal (toward the self, e.g. when predicting one's own future preferences).
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 ...
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 ...
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.
Carnitine deficiency is found in about 50% of cases. [18] Over 90% of those diagnosed with 3-Methylcrotonyl-CoA carboxylase deficiency by newborn screening remain asymptomatic. The medical abnormalities that present in the few who do show symptoms are not always clearly related to 3-Methylcrotonyl-CoA carboxylase deficiency. [5]