Doctor insights on:
Galactosemia How A Persons Health Is Affected By This Enzyme Deficiency
Lack of enzyme to...: replace the missing ones. There are 3 subtypes of galactosemia, each affected by a deficiency of a different enzyme. Just because we know which enzymes, doesn't mean that science has successfully created replacement enzymes to treat the illness- or that they are even trying. Maybe someday there will be the option of enzyme replacement, but given how rare the condition is it is not likely. ...Read more
Galactosemia is an inherited condition in which there is an inability to break down a type of sugar called galactose, leading to its accumulation in the body. This can cause damage to the eyes, liver, kidney, and brain resulting in the yellowing of skin, seizures, poor feeding, ...Read more
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 moreSee 2 more doctor answers
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
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?
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 moreSee 1 more doctor answer
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
G6PD deficiency&diet: The are lists of foods and medicines to avoid on the internet, especially from sites like g6pd deficiency.Org. The most important foods to avoid are fava beans and other legumes, sulfites, menthol, artifical blue food coloring, artificial ascorbic acid, and tonic water. All your doctors need to be provided with a list of the medications to avoid. ...Read more
I am a type 1.5 diabetic. What other hormones/enzymes could my pancreas be deficient? My liver is constantly over producing glucagon.
I believe I have issues with my digestion due to gas, bloating, constipation,low energy& mild nutrition deficency. Enzymes upset mystomach. Probiotic?
See below:: Classic galactosemia occurs in approximately 1 of 60, 000 live births. However, the reported incidence of galactosemia varies geographically from 1 in 30, 000 to 40, 000 in europe to 1 in 1 million in japan. The estimated incidence in the United States is 1 in 53, 000. It occurs in the neonatal/infancy age group. ...Read more
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