DOCTORS'
Medical Case Studies
DOCTORS'
Medical Case Studies
Metabolic disorders
Inborn error of metabolism
Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances into others. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases...
Metabolic disorders - List of case studies
- Metastatic melanoma stage IIIC
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are proofs of relevant pathological hyperaccumulation of metabolic tracer in the remaining explored body regions.” One month ... primary risk is that patients will develop autoimmune disorders from therapy that typically manifest over the first several months ...
- Possible Anorexia, Vomiting, Failure to Gain Weight and Linear Growth Retardation
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stenosis – normal renal function – normal metabolic disorders – normal Brain MRI – normal Barium contrast study ...
- Feeding problems, vomiting and short stature in prematurely born child
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normal. Renal function – normal. Metabolic disorders – normal. Brain MRI – normal. Barium ...
- List of Examinations
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Charcot Marie Tooth disease Check of genetic disorders Checking Endocrine abnormalities Checking thoracic ... blood count Complete lipid profile Comprehensive metabolic panel Computed tomography (CT) Condensed cuts to pancreas ...