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Methylmalonic acidemia Causes and Risks:
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:
Signs and Tests:
Physical examination and laboratory testing shows signs of acidosis , ketosis, and elevated serum ammonia .
Tests:
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.
Prognosis:
Affected infants may not survive their first attack. Recurrent attacks of acidosis are expected.
Complications:
Call Your Healthcare 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 .
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