methylmalonic acidemia…

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methylmalonic acidemia, inherited disorder that, diagnosed in infancy, accumulation of methylmalonic acid, lead to severe metabolic problems, people, disease can't change, "metabolize, " an enzyme, methymalonyl-coenzyme a, result is a buildup of methylmalonic acid, disease, diagnosed, in the first year of life, an autosomal recessive disorder, the defective gene must be inherited from both parents, about 1 in 25,000 - 48,000 babies, born, true rate of occurrence, the disease higher, many newborn, die, undiagnosed case, boys, girls, equally affected, disease, cause seizures, stroke, babies, appear normal at birth, develop symptoms once start eating more protein, cause the condition to get worse, vomiting, dehydration, lethargy, seizures, failure to thrive, recurrent infections, candida, progressive encephalopathy, developmental delays, a number of different laboratory, radiology tests performed, serum electrolytes, blood gas, acidosis, serum ammonia levels, ammonia, test, serum, urine tests, amino acids, organic acids, serum methylmalonic acid levels, enzyme analysis of fibroblasts, the specific enzyme defect, cbc, neutropenia, anemia, thrombocytopenia, ct scan, mri, the brain following a seizure, treatment consists of dietary supplementation, cobalamin, carnitine, protein restriction, cobalamine supplementation doesn't help, a diet restricting isoleucine, threonine, methionine, valine useful, unfortunately, patients, not survive first attack, , coma, death, parents, care-givers of a child, a first seizure should immediately seek medical attention, infants, failure-to-thrive, developmental delays should see a pediatrician, adults, children, strokes, acute mental status changes should seek immediate medical attention, a low-protein maintenance diet, to reduce recurrent attacks of acidemia, patients should also avoid people who, sick, parents of a child, couples desiring children, a known family history of this disorder should seek information on genetic counseling.