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Metabolic Disease - Major Classes Of Metabolic Disorders

Tweet Cells are constructed from four major types of molecules: carbohydrates, proteins, fats, and nucleic acids. The metabolic pathways involving each are Disease Defective Enzyme or System Symptoms Treatment Disorders of Amino Acid Metabolism Phenylketonuria (PKU) phenylalanine hydroxylase severe mental retardation screening; dietary modification Malignant PKU biopterin cofactor neurological disorder — Type 1 tyrosinemia fumarylacetoacetate hydrolase nerve damage, pain, liver failure liver transplantation; preceding enzyme inhibitor plus dietary modification Type 2 tyrosinemia tyrosine aminotransferase irritation to the corneas of the eyes diet with reduced phenylalanine and tyrosine content Alkaptonuria disorder of tyrosine breakdown progressive arthritis and bone disease; dark urine — Homocystinuria and Hyperhomocysteinemia cystathionine-β-synthase or methylenetetrahydrofolate reductase or various deficiencies in formation of the methylcobalamin form of vitamin B12 hypercoagulability of the blood; vascular eposides; dislocation of the lens of the eye, elongation and thinning of the bones, and often mental retardation or psychiatric abnormalities vitamin B12, folic acid, be Continue reading >>

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Popular Questions

  1. One of our CDI noted an elevated lactic acid and queried the physician for a diagnosis. The patient did not have Sepsis. Our physician advisor said not to do that because the next lactic acid was normal. She said we should also be looking for the underlying cause of the lactic acidosis and not querying for the diagnosis. A diagnosis of lactic acidosis will give us a CC. Other CDI's have said that if the elevated lactic acid was treated, monitored or evaluated we should be querying for the diagnosis. Does anyone have any direction on how this should be handled?
    Is lactic acidosis always inherent in other conditions and that's what we should focus on?
    What can we pick up the diagnosis by itself as a CC / when should we query to get to documented in the chart?
    Are there any other clinical parameters we should be looking at when evaluating whether we should query such as the anion gap?
    Is there a specific treatment for metabolic acidosis?
    Thank you,
    Christine Butka RN MSN
    CDI Lead
    CentraState Medical Center
    Freehold, NJ

  2. What a timely comment. Recently, our coding auditor suggested that we should always keep an eye out for the cc "acidosis". It seems to me that lactic acidosis could be inherent to the disease process of sepsis and therefore should not be captured. Any thoughts?
    Yvonne B RN CDI Salinas, CA.

  3. Hello all! I agree, I believe lactic acidosis is inherent to sepsis. It is one of the most important indicators that gives the clnician a clue that sepsis may be present. Our fluid administration policy was actually developed on the lactic acid result: the higher the number, the more fluid we bolused (in non-CHF patients, of course). In cases were Sepsis is determined not to be present, we will query the provider, providing they treated or monitored the acidosis in some manner

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