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7+ Year Member
Sep 21, 2005
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does anyone have a reference about what a "metabolic disorder/disease" or a "disorder of metabolism" is?

first, there are all these rare inherited metabolic disorders like phenylketonuria

second, there are all these endocrine disorders, like diabetes, thyreoidism disorders, etc

third, there are all these disorders that have some kind of primary/causative or secondary endocrine or metabolic disorder, examples:

crohn disease (an autoimmune and not metabolic disorder) leads to bleeding and thus ferrus metabolism disorder
chronic renal failure (not a metabolic disorder) leads to amino acid metabolism disorder, since amino acids are not reabsorbed
chonic heart failure (not a metabolic disorder) leads to cardiac cachexia (a metabolic disorder of muscle wasting)

so is there a clear definition of what a metabolic disorder is called?

are these only the inherited (or inborn) metabolic disorders, where an enzyme is not functioning well or is not present at adequate amounts?

or other diseases are included?



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Jan 4, 2002
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all of these things can be called metabolic disorders, but in different contexts.

the first class is more appropriately named "inborn errors of metabolism"

the second is more appropriately named ENDOCRINE disorders, rather than metabolic disorders, as the primary disorders involve primary endocrine organs. This also includes the amorphous term "metabolic syndrome", or "metabolic syndrome X", which is actually a endocrine disorder.

the third class is OFTEN erroneously called METABOLIC disorder, especially in inpatient management: i.e. metabolic disorder = hyperkalemia, kypernatremia, metabolic acidosis, etc. Sometimes you hear "so and so is transferred from the ward to the ICU because of multiple metabolic disorders blah blah..." actually what it is (and should be called) is metabolic "DISARRAY". i.e. these are signs and symptoms of underlying disorders, but in inpatient management, because of the acuity of the situation, you have to manage the primary metabolic "disorder" itself first, before you can treat the underlying disorder. I.e. if someone has hyperkalemia because of renal failure, you have to get an EKG and push calcium bicarb etc. before getting the patient to dialysis. So this gives people the illusion that there are "metabolic disorders".

hope this clarifies things
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