If you have your urine checked for methylmalonic acid and it is clear does
that mean you don't have this disorder even if you have mild symptoms of
this and respond to the B12 shots? I only respond with hydroxycobalamin tho.
Linda

-----Original Message-----
From: emtech-journey <emtech-journey@...>
To: iem-family@onelist.com <iem-family@onelist.com>; hansen@...
<hansen@...>; Emtech-journey\ @ic.net p; <Emtech-journey\ @ic.net p;>
Date: Saturday, November 20, 1999 7:30 AM
Subject: [iem-family] (no subject)


>From: emtech-journey <emtech-journey@...>
>
>
>hansen@... wrote:
>My best friend's daughter was diagnosed with Methylmalonic
>Acidemia just last week. The baby is almost 6 months of age. We
>are looking for help and hope in this trying time. If I could be
>added on the mailing list or where I could get information about
>this disorder, it would be greatly appreciated. My e-mail is
>hansen@.... This has come as a shock to all and we are
>looking for good news. Thank you for responding to this quickly.
>Spring Hansen
>
>
>
>Hi!
>Lots of resources exist...
>http://www.alltheweb.com and found
>these hits among many others.
>Good luck!
>
>
>
>From: http://www.healthcentral.com/peds/top/001162.cfm :
>
>
> methylmalonic acidemia
>Definition:
>A group of inherited metabolic disorders that cause the
>accumulation of methylmalonic acid in the body and episodes of
>severe acidosis and ketosis that can be fatal.
>
>Causes, incidence, and risk factors:
>Defects in the metabolic pathways of methylmalonic acid, succinic
>acid, and vitamin B12 activity are responsible for the bouts of
>acidosis and ketosis. Infection or high protein intake may
>precede episodes of acidosis. Untreated acidosis progresses to
>coma followed by death.
>
>Prevention:
>Following a low-protein maintenance diets and avoiding infection
>help to reduce recurrent attacks of acidosis.
>
>Symptoms:
>decreased muscle tone (hypotonia)
>failure to thrive
>delayed development
>
>Signs and tests:
>Physical examination and laboratory testing shows signs of
>acidosis, ketosis, and elevated serum ammonia.
>
>Tests:
>serum electrolytes (chem-20)
>serum ammonia levels (see ammonia - test)
>serum ketones
>serum methylmalonic acid levels
>enzyme assay in cultured amniotic cells for methylmalonyl CoA
>mutase activity
>
>Treatment:
>Long-term administration of alkalinizing agents (such as
>bicarbonate) help to prevent episodes of acidosis. Large doses of
>vitamin B12 may be given during acute attacks. A low-protein diet
>must be maintained.
>
>Expectations (prognosis):
>Affected infants may not survive their first attack. Recurrent
>attacks of acidosis are expected.
>
>Complications:
>coma
>fatal outcome
>
>Calling your health care provider:
>Call to see your health care provider immediately if you develop
>signs of acidosis such as headache, decreased alertness,
>disorientation, blurred vision, irritability, or restlessness.
>
>
>
>Also, from:
>
>http://www.babycenter.com/expert/4470.html
>
>
>
>
>Methylmalonic acidemia is an inherited illness in which the body
>doesn't metabolize protein correctly. Most babies are diagnosed
>with the disease only after they get sick. Doctors don't usually
>test newborns for methylmalonic acidemia, but because it may
>cause the unexplained deaths and serious illnesses of some
>babies, many states are now thinking of including it among the
>many diseases for which doctors and midwives screen infants
>immediately after birth. With new technologies and research, we
>should see more of these genetic conditions diagnosed in the
>future, paving the way for prevention and treatment.
>
>According to Dr. Bruce Barshop and his clinical staff in the
>division of metabolic genetics at the University of California
>San Diego School of Medicine, a deficiency in the body's
>metabolism of methylmalonic acid, a type of amino acid, causes
>methylmalonic acidemia. If a person with this condition eats too
>much protein, his capacity to digest and use the protein
>overloads the deficient enzyme system.. Too little dietary
>protein triggers the body to break down its own protein, which
>can also overwhelm the deficient enzyme. The disorder is
>life-threatening and special problems can arise during infections
>or times of stress.
>
>Parents may need to monitor their child's diet, which can be
>crucial and tricky. Some people respond to vitamin B-12.
>Carnitine, a natural nutrient, can also work. We recommend
>consulting a dietitian and a physician experienced in the
>treatment of inherited metabolic disease.
>
>You may also want to contact the Organic Acidemia Association,
>which publishes a newsletter that provides information and
>support to families. You can write to the organization at OAA,
>2287 Cypress Avenue, San Pablo, CA 94806. You can also call OAA
>at (510) 724-0297, or check the OAA Web site.
>
>--Suzanne D. Dixon, M.D., M.P.H., with consultation from Bruce
>Barshop, M.D., UCSD School of Medicine
>
>
>
>
>
>
>Main Expert Page
>As with any source of medical or health care information, you
>should as a preliminary matter satisfy yourself that the
>credentials and experience of the source are suitable.
>
>IMPORTANT:The information provided through the Ask the Experts
>service is a general educational aid designed to help you discuss
>your unique medical or health concerns with your physician or
>qualified health care provider. You should not rely on the
>information as a substitute for personal medical or health care
>advice, or for diagnosis or treatment purposes. Always consult
>your physician or other qualified health care provider as soon as
>possible about any medical or health-related question, and do not
>await a response from our experts before such consultation.
>
>
>
>
>
>
>That OAA web address is: http://www.just4u.com/oaa/index.htm
>
>>IEM FAMILY FORUM
> -----------------------
> Travel Savings Alert
> http://bestbuystravel.com
>--------------------------
> Find It Now
> http://clickpick.com/
>-------------------------
> My Weather
> http://clickpick.com/hw2/myweather.cgi
>----------------------------------------
> Stop Smoking
> http://just4u.com/forums/cgi/show.cgi?26/26.html
>