How is child methylmalonic acidemia caused?
summary
Methylmalonic acidemia in children, also known as methylmalonic aciduria, is an autosomal recessive inheritance. The main clinical manifestations are early onset, severe intermittent ketoacidosis, increased methylmalonic acid in blood and urine, and often accompanied by central nervous system symptoms. How is child methylmalonic acidemia caused? Next, I'd like to share my views with you.
How is child methylmalonic acidemia caused?
The disease is autosomal recessive. L-methylmalonic acid could not be converted into Succinic Acid and accumulated in the blood due to the deficiency of methylmalonyl coenzyme A mutase (vitamin B12 non reactive type) or coenzyme cobaltic ammonium adenosine (vitamin B12 reactive type).
Hereditary methylmalonic acidemia with homocystinuria, with defects of cblC, CBLD and CBLF. The clinical manifestations of patients with cblC deficiency vary greatly, but most of them are neurological symptoms. The symptoms of early-onset cases appeared at 2 months after birth, which were dysplasia, feeding difficulty or sleepiness.
Late onset cases may have symptoms at the age of 4-14 years, including fatigue, delirium, tonic spasm, dementia, myelopathy, etc. Most cases have hematological abnormalities, such as megaloblastic anemia, megaloblastic anemia, polymorphonuclear leukopenia and thrombocytopenia. Serum concentrations of cobalamin and folic acid were normal.
matters needing attention
Most of the inherited metabolic diseases have no effective treatment, so prevention is more important. Prenatal diagnosis of inherited metabolic diseases is one of the effective measures to prevent the occurrence of genetic diseases. It is the practical application of human genetic knowledge and an important measure of eugenics.
