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Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. [2] It has been previously referred to as polyneuropathy , ophthalmoplegia , leukoencephalopathy , and intestinal pseudoobstruction (POLIP syndrome). [ 3 ]
Early infantile epileptic encephalopathy (acquired or congenital abnormal cortical development). Early myoclonic epileptic encephalopathy (possibly due to metabolic disorders). Gluten encephalopathy: Focal abnormalities of the white matter (generally area of low perfusion) are appreciated through magnetic resonance. Migraine is the most common ...
Hepatic encephalopathy type B may arise in those who have undergone a TIPS procedure; in most cases this resolves spontaneously or with the medical treatments discussed below, but in a small proportion of about 5%, occlusion of the shunt is required to address the symptoms. [10] In hepatic encephalopathy type C, the identification and treatment ...
The exact definition of "rapid" is somewhat questionable, and different sub-divisions exist which are based on the time from onset of first hepatic symptoms to onset of encephalopathy. One scheme defines "acute hepatic failure" as the development of encephalopathy within 26 weeks of the onset of any hepatic symptoms.
During metabolic crisis, moderate hyperammonemia, [7] hypoglycemia, and metabolic acidosis have been noted. [17] There is a broad spectrum of clinical manifestations ranging from cardiomyopathy, developmental delays, [4] leukodystrophy, necrotizing encephalopathy, respiratory failure, hypotonia, [6] cerebral palsy and failure to thrive. [17]
Reference ranges (reference intervals) for blood tests are sets of values used by a health professional to interpret a set of medical test results from blood samples. Reference ranges for blood tests are studied within the field of clinical chemistry (also known as "clinical biochemistry", "chemical pathology" or "pure blood chemistry"), the ...
The comprehensive metabolic panel, or chemical screen (CMP; CPT code 80053), is a panel of 14 blood tests that serves as an initial broad medical screening tool. The CMP provides a rough check of kidney function, liver function, diabetic and parathyroid status, and electrolyte and fluid balance , but this type of screening has its limitations.
After phenylketonuria, glycine encephalopathy is the second most common disorder of amino acid metabolism. The disease is caused by defects in the glycine cleavage system, an enzyme responsible for glycine catabolism. There are several forms of the disease, with varying severity of symptoms and time of onset.