MAETABOLIC DISEASES AND NEUROLOGICAL PROBLEMS

[bob]

HI

Dear CCF neuro!
For over A year I have some odd neurological symptoms (numbness,twitching allover,slight weakness), and I had some bad blood tests which suggested liver problem (Increased liver enzymes) - Due to the long duration of this all thing - My neuro suggested a genetic metaboloic disorder... (Due to the combination of neuro and liver problems which are both chronic)
My neuro suggested several disordes:

Here are some of them...
  DEAR neuro, please let me know which usual tests May show ANY abnormalities in these conditions or even suggest them...
By usual I mean the blood/urine tests that most Labs offer(GLUCOSE,PROTEIN,LIVER ENZYMES(LDH,AST,ALT,GGT etc..),PT,PTT,ELECROLYTES,LIPID PROFILE, ANA,etc..) and also general condition you can notice in usual tests such as Hypoglycemia
I do not mean the SPECIfic complicated gentetic tests/enzyme assays which are needed - Just which usual test would show abnormality:

1. AMINO ACID METABOLISM DISORDERS (any usual test would show abnormality)
2.GLYCOGEN STORAGE DISEASE _ ALL Types- (any usual test would show abnormality (glucose, Hypoglucemia? always)
3.Mitochondrial disorders (In my case which involve nerves and liver) - any usual common test would show abnormality? (lactate?)
4.Lipidoses - such as Gauchers - I know these are many different
conditions which in a specific enzyme does not function- But is there a common test that would point to this direction, except the specific enzyme assay for each of the disorders? (because It is impossible to look for more than 100 disordes  from that type
5.AMyloidosis??? (any usual commom test would show abnormality)

DEAR NEURO..
please let me know of such 2 or 3 common tests for each of these conditions !
* Common tests = usual tests that would show abnormality and would make the doctor even think of this possibility...

THANK YOU AND LOOKING FORWARD FOR YOUR RESPONSE!

[Just a thought]

Bob,


Also, there is a very rare inherited disorder of copper metabolism called Wilson's disease that causes neurological problems (I believe tremors, stiffness and weakness mostly) and liver problems.  Has it been ruled out in your case?  You can read about Wilson's disease at the site listed above.  

Good luck to you.

[CCF Neuro[P] MD, RPS]

Dear Jim:

I am not sure what "carbohydrate" test you are talking about.  Do you have a high glucose level or is it a hemoglobin 1Ac test?  Alcohol is metabolized by its own enzyme ADH and if this a problem and your ADH is low, then you shouldn't drink alcohol.  However, ethanol is not a sugar per se, so I am uncertain of what is going on.  Organic acids are naturally occuring compounds in our body and if there is a defect in metabolizing them, they show up in our urine or serum.  They can be a potential problem and cause both central and peripheral nerve damage.  I would go back and talk to your physician and get a better explanation of your problem.

CCF Neuro MD

[A question about Metabolic Disorder for]

I am hoping you will read this and respond.  I was given a carbohydrate test that came back 12.8 (range for test was 0.0-5.9), I had a talk with my Neuro who asked pointedly if I drank alcohol I said no.  So he then ran a carbohydrate deficient glycoprotein test (ultra Q) and it cam back 5.4%.  I was told I have no tolerance for alcohol or organic solvents.  Its a metabolic disorder, my body can't break down any form of alcohol.  I can't find any information on this ?  So far I am not taking any medication, etc. for this problem.  I have cleaned out my house and I have gotten rid of any products containing alochol and organic solvents.  

Is there anything I can do to help myself with this type of problem?  Will this effect my liver over time?  Even though I don't drink alcohol at all.  So far I haven't received any medication, I was just told to avoid the alcohol.  

thank You
JM

[CCF Neuro[P] MD, RPS]

Dear Bob:

What we usually do is a CBC, complete metabolic profile (usual electrolytes), lactate, pyruvate, long chain fatty acids, CPK, serum and urine: amino acids, organic acids, acyl and free carnitine; and ammonia.  We would send CSF for atypical cells, ACE, amino acids and lactate, in addition to the usual labs.  Sometimes a skin and muscle biopsy are done depending on the results of the above.  These tests will generally give the clinician a clue to the possible etiology of the disorder.  An EMG is essential if there is muscle weakness on exam.  

I hope this helps.

CCF Neuro MD