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






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That OAA web address is: http://www.just4u.com/oaa/index.htm