Question 1

should i be concerned if my daughter was recently diagnosed with biotinidase deficiency. need help with reading lab report(s).?

Accepted Answer

VERY concerned: If you do not follow instructions exactly, your daughter will end up severely disabled. If you comply, she should have a good life. This is why we test for it. And please forgive my frankness -- if the folks who gave you the reports did not explain them clearly, go right back and demand that they do so. Everything depends on your being accurately informed and pro-active.

Question 2

what are the medical problems associated with biotinidase deficiency?

Accepted Answer

Seizures: If untreated , seizures and possible brain damage.Easily treated with a vitamin-biotin daily.

Question 3

what labs are drawn with biotinidase deficiency and what do they mean?

Accepted Answer

See below: Usually when biotinidase deficiency is suspected, an inborn error of metabolism is suspected and multiple labs are drawn as the general symptoms are similar to may other inborn errors of metabolism.  Labs including, serum ammonia, urine organic acids, plasma amino acids
urine ketones, blood gas, serum chemistries, biotinidase, carnitine, and acylcarnitine profiles are drawn.  Results will vary.

Question 4

biotinidase deficiency - what are the medical problems ?

Accepted Answer

Seizures: If untreated , seizures and possible brain damage.Easily treated with a vitamin-biotin daily.

Question 5

can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? if not, what additional indications are required for md to order germline analysis?

Accepted Answer

Lynch Syndrome I is: Historically known as hereditary nonpolyposis colorectal cancer (hnpcc), excludes familial adenomatous polyposis, a different inheritable disorder. See http://ghr.Nlm.Nih.Gov/condition/familial-adenomatous-polyposis. Lynch ii includes cancers of other areas of the GI tract, the urinary tract & the female reproductive system. Molecular genetic tests are used in the diagnosis of all 3 disorders.

Question 6

what is the definition or description of: thrombophilia dna mutation analysis?

Accepted Answer

Blood test.: Thombophilia refers to a genetic or acquired condition that predisposes abnormal blood clots.  There are dna tests commonly done for 2 such conditions, factor v leiden and the prothrombin gene mutation.  They are the two most common inherited thrombophilias.  There are other thrombophilias  for which coagulation protein levels are measured, rather than using dna tests.

Question 7

b12 deficiency and mthfrdna mutation. should i be taking methyl b12.?  i take cynacobilamin now

Accepted Answer

Little science here: MTHFR testing is pushed by a single lab and most of us pathologists aren't impressed. A majority of people are told they have a mutation and get advised to take special vitamins. I'd take an ordinary preparation. Maybe time will prove these folks right but I would be surprised.

Question 8

if my growth hormone deficiency was a mutation in my family and no one else in my family history has it, will it be passed on to my children?

Accepted Answer

That depends: To pass it on to your children it is important to know if you have what is called a dominant or recessive mutation.  If you have had your genetics done and know the mutation then I would talk with a genetics counselor- they are super helpful!  I found a good resource but warning... it is pretty technical but very good on the subject!  
https://ghr.nlm.nih.gov/condition/isolated-growth-hormone-deficiency#inheritance

Question 9

have a mutation for immune deficiency (cvid2/igad2) associated with taci. normal iga, igm & igg but long history of severe infections. how to test it?

Accepted Answer

?: Not adding up, you can't literally have those conditions, repeated severe infections and normal measures of Ig subtypes.You need to be re-evaluated, you may simply have IgG subclass deficiency,or specific antibodies deficiency,testing for recall antigens for tetanus and pneumococcus,pre and post vaccination can prove it,treatment remains the same: IVIG therapy.Too complex for this limited platform

Question 10

which type of doctor would you recommend for vit d deficiency, mtfhr gene mutation and elevated homocysteine? primary doctor only wants to treat mtfhr

Accepted Answer

Primary care: Vitamin d deficiency/insufficiency can be managed by your primary care physician.  The mthfr/homocysteine issue is more complicated.  High levels of homocysteine have been linked to more advanced vascular disease and blood clots.  "treatment" has been with folic acid/ vitamins b6 and b12, which can lower homocysteine, but the few studies on the issue did not show improvement in subsequent events.

Get Virtual Care

For Businesses

About Us

HealthTap Online Primary Care Doctors Accepting New Patients

Doctor answers about:

Biotinidase deficiency mutation analysis

A member asked:

Should i be concerned if my daughter was recently diagnosed with biotinidase deficiency. need help with reading lab report(s).?

A member asked:

What are the medical problems associated with biotinidase deficiency?

A member asked:

What labs are drawn with biotinidase deficiency and what do they mean?

A member asked:

Biotinidase deficiency - what are the medical problems ?

A member asked:

Can you definitively rule out lynch syndrome in patients tested neg for msi/ihc without germline mutation analysis? if not, what additional indications are required for md to order germline analysis?

A member asked:

What is the definition or description of: thrombophilia dna mutation analysis?

A member asked:

B12 deficiency and mthfrdna mutation. should i be taking methyl b12.? i take cynacobilamin now

A member asked:

If my growth hormone deficiency was a mutation in my family and no one else in my family history has it, will it be passed on to my children?

A member asked:

Have a mutation for immune deficiency (cvid2/igad2) associated with taci. normal iga, igm & igg but long history of severe infections. how to test it?

A member asked:

Which type of doctor would you recommend for vit d deficiency, mtfhr gene mutation and elevated homocysteine? primary doctor only wants to treat mtfhr

HealthTap Online Primary Care Doctors Accepting New Patients

Telemedicine

Primary Care

Manage Your Conditions

Women's Health

Children's Health

Men's Health

Senior Health

Wellness, Prevention & Lifestyle

Sexual Health

Mental & Behavioral Health

Travel Medicine

Urgent Care

Didn't find what you're looking for?

More of what we treat

Allergies

Antibiotics

Asthma

High Blood Pressure

Prescriptions

Type 2 Diabetes

For Businesses

Company

Health Content

Join Us

Download HealthTap

Questions?