Talk:Inborn error of metabolism

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Only four references?? — Preceding unsigned comment added by (talk) 11:00, 9 September 2017 (UTC)

Title Change[edit]

It is pointless to use the outdated "Inborn error of metabolism" use either of the options presented at the end of the first paragraph.Grouphug (talk) 23:12, 26 March 2010 (UTC)

Among basic research scientists and clinicians who deal with the conditions all three terms are in current use and considered interchangeable. I agree that current texts tend to prefer inherited metabolic diseases but I am not sure whether it would yet be the most likely search term a non-professional would use. Setting up redirects for the newer terms would be a good idea. Do you know how? alteripse (talk) 11:44, 27 March 2010 (UTC)

Concur, especially since not every metabolic disorder has genetic origins. Consider Exercise Associated HyponatremiaSuidafrikaan (talk) 17:33, 6 January 2014 (UTC)

Arranging the diseases by their prognosis[edit]

I know of someone whose child passed away in 15 days due to some inborn metabolic disorder.. Tried finding out what it could be in wiki. coudnt :-(

13:19, 20 May 2010 (UTC)

Aloha~ tryn to find what killed my mom at 39, they told me that she had a "metabolical catasphe" says on her death certificate:Encephalopathy probably from Hypoglycemia, due to Pulmonary embboli due to Cellulitis. She was 39 perfect health, worked for OSHA, drank beer but no drugs and went to sleep and never woke up> was in a coma for 2 months b/4 I pulled the plug. tryn to find out what killed her since 1992. no anwsers yet and i just had my first kid at 36, dont know what to tell her.please email me: *****many mahalo's in advance~ jennifer miller —Preceding unsigned comment added by (talk) 22:01, 3 September 2010 (UTC)


Enzymopathy redirects here. Is enzymopathy the same thing as any 'inborn error of metabolism'? Or does it refer to "The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products)."? If so, why is it called Enzymopathy (if that's relevant)? I admittedly didn't read the whole article, but ctrl+fing through the article reveals (currently at least) exactly zero occurrences of the word. Can someone add a bit of redirect-clarity for the terminally clueless like me? :) -pinkgothic (talk) 12:06, 8 July 2011 (UTC)

I came here with the same question. But I know that -pathy (from Ancient Greek πάθος, páthos, "suffering") refers to diseases of various kinds, so I suppose it refers to the "majority" you mention above. (talk) 23:15, 19 January 2015 (UTC)

Practical approach[edit]

doi:10.1136/jcp.2009.067884 seems useful. JFW | T@lk 22:12, 18 March 2013 (UTC)