Is methylmalonic acidemia fatal?
Methylmalonic acidemia stems from several genotypes, all forms of the disorder usually diagnosed in the early neonatal period, presenting progressive encephalopathy, and secondary hyperammonemia. The disorder can result in death if undiagnosed or left untreated.
What is the illness MMA?
Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening.
How does methylmalonic acidemia happen?
The methylmalonic acidemias are organic acidemias caused by an enzymatic defect in the metabolism of four amino acids (methionine, threonine, isoleucine and valine). This results in an abnormally high level of acid in the blood (academia) and body tissues. In the acute form, drowsiness, coma, and seizures may occur.
How common is methylmalonic acidemia?
Methylmalonic acidemia (MMA) is estimated to affect one out of every 50,000 to 100,000 babies born in the United States. MMA is caused by cobalamin disorders A and B is only one form of methylmalonic acidemia.
Is methylmalonic acidemia hereditary?
How do people inherit methylmalonic acidemia? Methylmalonic acidemia is inherited in an autosomal recessive manner. In an individual with methylmalonic acidemia, both copies of the gene ( MUT, MMAA, MMAB, MMACHC MMADHC and LMBRD1) have mutations or alterations.
How is Niemann Pick Disease inherited?
The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected. Niemann-Pick is a progressive disease, and there is no cure.
How is MMA treated?
Methylmalonic acidemia is treated primarily with a low-protein, high-calorie diet, certain medications, antibiotics and in some cases, organ transplantation. Medication treatment consists cobalamin (vitamin B12) given as an injection, carnitine, and antibiotics.
How do you treat MMA?
How does Niemann-Pick affect the brain?
Types of Niemann-Pick This affects the body’s ability to metabolize fat (cholesterol and lipids), resulting in a buildup of fat in cells. This causes cell dysfunction and, over time, cell death. Type A occurs mainly in infants, who show severe, progressive brain disease.