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Q. Clinical manifestations of maple syrup urine disease?
Clinical manifestations are expressed upon protein loading or with febrile illness. In most severely impaired enzyme deficiency, seizures, apnea (brief pause in breathing) and death may occur. In untreated patients with classic MSUD who survive beyond early infancy, there is retardation of physical and mental development. Early diagnosi3 and therapy lead to normal growth and development.
Most infants with classic MSUD have greater than 8 mg/dl leucine at 72 hours of age. Diagnosis is confirmed using ion exchange chromatography to quantify plasma isoleucine, leucine, valine and alloisoleucine, and urinary branched chain a keto acids.
Q. What is Acute Severe Mitral Regurgitation? Acute severe mitral regurgitation is a medical emergency. Patient presents with breathlessness and low output state. He may be is
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Explain Whey protein concentrates Whey protein concentrates (WPC) are the products derived from whey from which the water, minerals and lactose have been removed. WPC is a wh
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Define Criteria for Assessment of Niacin Status? Niacin status can be monitored by daily urinary excretion of methylated metabolites, especially the ratio of the 2-pyridone to
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