Q: my methylmalonic acid level is <20 is this normal? my b12 is 260 & homocysteine 12.

Yes: You have low normal b-12 levels, but with a normal methylmalonic acid and homocysteine, then you have b-12 in the body.

Q: gp does not agree to a homocysteine serum test or methylmalonic acid test. gp explains b12 normal not low in the range130-800pg/l my result 155pg/l?

I agree: Testing involving homocysteine and one of the genes involved in its metabolism, and methylmalonic acid screens, have been heavily promoted to the public as tests that should be part of routine health care. Most of my fellow-pathologists are skeptical at best. I'd be thankful for good health as demonstrated in your serum B12 and look for some other explanation for whatever symptoms / signs you have

Question 1

my 3 years son has ethyle malonic aciduria l need any information about this diseas and the medicines should take for it?

Accepted Answer

Rare condition: Ee is a very rare genetic condition that can cause encephalopathy, seizures, developmental delay and possibly respiratory. Distress. Find a geneticist who is affiliated with a teaching hospital for help. Your best source of information would be ni h inwashington dc.

Question 2

which is rate metabolic disorder 4 hydroxy butyric aciduria?

Accepted Answer

Probable ketosis: Beta hydroxybutyric acid is a compound formed during starvation, or diabetic ketoacidosis as the result of fat breakdown for energy in the absence of carbohydrates

the question here is unclear, perhaps re submit?

Question 3

my 16 months son has ethyl malonic aciduria, his course r vitamine and special diet.what r the medicines the latest researches discover to cure it?

Accepted Answer

No cure: The disorder methylmalonic acidemia is an inborn error in metabolism that is present in every cell of his body.  There is no cure, but modified diet and careful monitoring of levels and vitamins will allow good development and good health for most children.  An experienced genetic metabolic clinic can help answer your questions and keep you informed about the most current research.

Question 4

my 16 months son has ethyl malonic aciduria, which kind of fats that harm his health (saturated or monoun saturated fat) ?

Accepted Answer

His doctor can help: With a young child who has a metabolic disorder, the clinical genetics doctor and the pediatrician can help with advice on dietary restrictions. The cause of ethylmalonic aciduria may be a mutation that causes abnormal handling of certain Amino Acids (which come from digesting dietary protein), which means the type of fats in the diet shouldn't matter much.

Question 5

for those metabolic drs. out there, what would be your standard protocol for glutaric aciduria type 1? meds? formula type? vaccination schedule? etc.

Accepted Answer

Special diet, etc...: For metabolic disorders, the genetics specialists at a children's hospital is the best source of help. The site http://www.Newbornscreening.Info/parents/organicaciddisorders/ga1.Html#4 has good info on glutaric aciduria treatment. One goal is to avoid infections, which would make a baby not eat and get internal stress (metabolic crisis occurs, leading to more brain damage). So, vaccines are good.

Question 6

in cases of glutathione synthetase deficiency (e.g. gsh metabolism disorder), what symptoms might be observed?

if a positive lab test was obtained, how could it be treated?

#5-oxoprolinuria #pyroglutamic-aciduria
#oxidative-stress #amino-acids

Accepted Answer

Need to examine: It is not feasible to provide a meaningful opinion without additional history, physical examination and may be some tests.

Question 7

what is low methylmalonic acid?

Accepted Answer

B12: Methylmalonic acid is used to detect Vitamin B12 deficiency.

Question 8

why would a person   need a urine methylmalonic acid level test?

Accepted Answer

Vitamin B 12: Deficiency of vitamin B12 causes elevation of urine methylmalonic acid.  Even though we can measure serum levels of B12 this test does not fully assess physiologic status of B12 adequacy.

Question 9

my methylmalonic acid level is <20 is this normal? my b12 is 260 & homocysteine 12.

Accepted Answer

Yes: You have low normal b-12 levels, but with a normal methylmalonic acid and homocysteine, then you have b-12 in the body.

Question 10

gp does not agree to a  homocysteine  serum test or methylmalonic acid test.
gp explains b12 normal not low in the range130-800pg/l
my result 155pg/l?

Accepted Answer

I agree: Testing involving homocysteine and one of the genes involved in its metabolism, and methylmalonic acid screens, have been heavily promoted to the public as tests that should be part of routine health care. Most of my fellow-pathologists are skeptical at best. I'd be thankful for good health as demonstrated in your serum B12 and look for some other explanation for whatever symptoms / signs you have

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Doctor answers about:

Methylmalonic aciduria

A member asked:

My 3 years son has ethyle malonic aciduria l need any information about this diseas and the medicines should take for it?

A member asked:

Which is rate metabolic disorder 4 hydroxy butyric aciduria?

A member asked:

My 16 months son has ethyl malonic aciduria, his course r vitamine and special diet.what r the medicines the latest researches discover to cure it?

A member asked:

My 16 months son has ethyl malonic aciduria, which kind of fats that harm his health (saturated or monoun saturated fat) ?

A member asked:

For those metabolic drs. out there, what would be your standard protocol for glutaric aciduria type 1? meds? formula type? vaccination schedule? etc.

A member asked:

In cases of glutathione synthetase deficiency (e.g. gsh metabolism disorder), what symptoms might be observed? if a positive lab test was obtained, how could it be treated? #5-oxoprolinuria #pyroglutamic-aciduria #oxidative-stress #amino-acids

A member asked:

What is low methylmalonic acid?

A member asked:

Why would a person need a urine methylmalonic acid level test?

A member asked:

My methylmalonic acid level is <20 is this normal? my b12 is 260 & homocysteine 12.

A member asked:

Gp does not agree to a homocysteine serum test or methylmalonic acid test. gp explains b12 normal not low in the range130-800pg/l my result 155pg/l?

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