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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.
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 ...
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]
GLUT1 deficiency syndrome, also known as GLUT1-DS, De Vivo disease or Glucose transporter type 1 deficiency syndrome, is an autosomal dominant genetic metabolic disorder associated with a deficiency of GLUT1, the protein that transports glucose across the blood brain barrier. [1]
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 ...
Humoral immune deficiency (including B cell deficiency or dysfunction), with signs or symptoms depending on the cause, but generally include signs of hypogammaglobulinemia (decrease of one or more types of antibodies) with presentations including repeated mild respiratory infections, and/or agammaglobulinemia (lack of all or most antibody production) which results in frequent severe infections ...
This leads to a multiple vitamin deficiency, affecting the fat-soluble vitamin A, vitamin D, vitamin E, and vitamin K. [11] However, many of the observed effects are due to vitamin E deficiency in particular. [11] Acanthocytosis in a patient with abetalipoproteinemia. Signs and symptoms vary and present differently from person to person.
The first step in treatment is determining whether the deficiency is caused by a gastrointestinal or kidney problem. People with no or minimal symptoms are given oral magnesium; however, many people experience diarrhea and other gastrointestinal discomfort.