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Doctor insights on: Fatal Congenital Enzyme Deficiency

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Does g6pd enzyme deficiency go away?

Does g6pd enzyme deficiency go away?

No: G6pd deficiency is a genetic disorder that is passed down on the x chromosome. A person who has this diagnosis cannot get rid of it. However, the enzyme levels can fluctuate in people and certain illnesses, exposures, and stresses can make the symptoms of the disease appear when these enzyme levels drop low. So you may not have symptoms of the disease, even though you still have the diagnosis. ...Read more

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Enzyme (Definition)

An enzyme causes the transformation of a compoond to another compound. In living structures, it is the transformation of a protein to another form. An example is from an inactive state ...Read more


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What are the natural sources of digestive enzymes, i ve no appetite or very low one since a long time, cd this be due enzyme deficiency?

What are the natural sources of digestive enzymes, i ve no appetite or very low one since a long time, cd this be due enzyme deficiency?

COULD BE: There are myriad reasons for poor appetite. This would be at least a 2 hour visit investigating clues, symptoms, etc.. I see you have respiratory problems. Do you smoke? That's a big one. You are young, and sound like you have sxs of anxiety, which in and of itself is classic for loss of appetite. See a good, comprehensive doctor and ask questions, go through all your symptoms, how long, etc. ...Read more

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Is there a blood test that can detect enzyme deficiencies? If so what is the name of the test? What type of doctor can test you for enzyme deficiency?

Is there a blood test that can detect enzyme deficiencies? If so what is the name of the test? What type of doctor can test you for enzyme deficiency?

Depends: It depends on what symptoms one has. If the symptoms are gastrointestinal,then a gastroenterologist would order the appropriate tests. For hormonal problems, an endocrinologist is best. For blood problems, a hematologist is best,etc. The specialist looks for the enzyme deficiency. ...Read more

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I am 38 year old female with hypothyroidism, vitamin d and b deficiencies and highly suspected aldh 2 enzyme deficiency. How does this all tie in?

I am 38 year old female with hypothyroidism, vitamin d and b deficiencies and highly suspected aldh 2 enzyme deficiency. How does this all tie in?

ALDH is seperate: Limit alcohol as your risk for cancer is increased. Hypothyroidism can affect digestion and absorption which can promote deficiencies. B12 def can also affect your thyroid function. Consider gluten sensitivity also as this can tie in. ...Read more

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I have an enzyme deficiency that doesn't allow me to run or walk fast. My muscles tense up, my feet & legs get numb and it hurts. What enzyme is it?

I have an enzyme deficiency that doesn't allow me to run or walk fast. My muscles tense up, my feet & legs get numb and it hurts. What enzyme is it?

Nonspecific: A number of hereditary muscle diseases can mimic your symptoms, and you can have a muscle biopsy which will reveal your exact condition. The numbness is not of muscle origin however, and raises question of underlying nerve disorder instead. Go to local medical school and see neuromuscular specialist. ...Read more

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I have a slightly elevated angiotensin conv. Enzyme the cut off was 53 and i was 64. Does this mean I have sarcoidosis? And is that a fatal illness?

I have a slightly elevated angiotensin conv. Enzyme the cut off was 53 and i was 64. Does this mean I have sarcoidosis? And is that a fatal illness?

See below: Sarcoidosis can be such a mild disorder that no treatment is needed or can be life-threatening. Most of the time simple treatments - not steroids - will control the disease. Workup for underlying causes/mimics is essential. Ace levels are meaningful only related to clinical symptoms. Rheumatologist should provide clarification. ...Read more

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I HAVE CHRONIC HEP C AND ELEVATED LIVER AND KIDNEY ENZYMES IS THIS FATAL?

Impossible to tell: You will need to follow up with your GI DR closely and follow their instructions Impossible to give you any other response, without knowing you full medical history, labs-complete, and a physical exam ...Read more

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Is it possible to have children if you have congenital growth hormone deficiency?

Is it possible to have children if you have congenital growth hormone deficiency?

Yes: If that's the only hormone deficiency then replacing gh will be helpful. If there are other pituitary hormone deficiencies it becomes more difficult, but still possible. ...Read more

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Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Can my heterozygotes status of congenital adrenal hyperplasia (21-Hydrolaxe deficiency, salt-wasting) explain hirsurtism & symptoms like polydipsia?

Maybe: Hydroxylase deficiency is actually a continuum, and there are many alleles. A workup is probably not worthwhile. Manage unwanted body hair with electrolysis or lasers -- you're doing yourself a favor. If your urinalysis (chemical, sediment), renal functions (BUN, creatinine) and concentrating ability (SG >1.020) while thirsty) are normal, I would not recommend further studies. ...Read more

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Can vitamin B12 deficiency or a congenital B12 absorption problem cause my 10 year old to still be wetting his pants?

Can vitamin B12 deficiency or a congenital B12 absorption problem cause my 10 year old to still be wetting his pants?

Rarely: Vitamin b12 deficiency would cause bed wetting problem due to bladder incontinence, hopefully repleting its stores in the body would reverse neurologic problems associated with the deficiency ...Read more