Methylmalonic+Acidemia

toc =INTRODUCTION:= Methylmalonic Acidemia is genetic, this causes the body to not be able to break down certain fats and proteins. The result of this is that Methylmalonic Acid ends up in your blood. This disease is considered an inborn error of metabolism mostly found in babies around their first year of life.

=MOLECULAR BASIS OF DISEASE:= Methylmalonic Acid is a dicarboxylic acid. The coenzyme (A) linked form methylmalonic acid. Methylmalonyl- CoA is converted into succinyl-CoA by Methylmalonyl-CoA mutase but B12 is a required vitamin used as a cofactor.

=CAUSES AND SYMPTOMS:= This disease has symptoms a child’s parent(s) can look for. When babies are born they appear normal but they develop symptoms once they start eating more protein which can cause the condition to get worse.

Methylmaloniconic Acidemia can cause: =EXAMS OR TESTS:= Tests for Methylmalonic Acidemia are usually done as a part of a new born screening exam. These screenings are often done at birth because early detection of this disease and early treatment will help the child in the long run.
 * Seizures
 * Strokes
 * Progressive Encephalopathy
 * Dehydration
 * Develepmental Delays as the child grows
 * Failure to Thrive
 * Lethargy
 * Repeated Yeast Infections
 * Vomiting

Tests that may be done include:
 * Plasma Amino Acid Tests
 * Ammonia Tests
 * A Blood Count Test
 * CT Scan and an MRI Scan
 * Genetic Testing
 * Electrolyte Levels
 * Methylmalonic Acid Blood Tests

=TREATMENT AND DIETS:= Children are often treated with carnitine and cobalamin supplements and a low-protein diet. Although, supplements may not always help the child, in that case the doctor will more than likely recommend a diet that avoids isoleucine,methionine, and valine.

=TRANSPLANTS:= A liver or kidney transplant (or both) may be suggested. Transplants like these have been shown to help patients with this disease progress. These transplants will provide the patient with new cells that will help them breakdown the Methylmalonic Acid normally.

=OUTLOOK:= Most babies do not survive the first stage of symptoms of this disease and its rare they survive at all.

=COMPLICATIONS:= The child could end up with or in: =PREVNTION:= =HYPERLINKS FOR MORE INFO:= https://medlineplus.gov/ency/article/001162.htm https://ghr.nlm.nih.gov/condition/methylmalonic-acidemia#resources http://www.nytimes.com/health/guides/disease/methylmalonic-acidemia/overview.html
 * A Coma
 * Kidney Failure
 * Death
 * Low-Protien Diet to reduce Acidemia attack
 * Genetic Counseling
 * Asking for newborn screenings