What is PA and MMA?
1. What are PA and MMA? PA is also known as propionic acidemia. MMA is also known as methylmalonic acidemia. They are organic acid disorders and represent defects in the metabolism of certain essential amino acids.
What is MMA treatment?
Methylmalonic acidemia is caused by changes in several different genes and is inherited in an autosomal recessive fashion. Treatment includes aggressive management of decompensation events, a low-protein diet, certain medications, antibiotics and, in some cases, liver and kidney transplantation.
What is PA illness?
Propionic acidemia (PA) is a genetic condition in which the body cannot process certain proteins and fats. It is caused by a mutation (change) in an enzyme called propionyl CoA carboxylase. Learn a care plan if your child with PA gets sick. If you need to go to the emergency room, take this with you.
Is MMA fatal?
Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.
What are the new MMA and PA guidelines?
This first revision of the MMA and PA guidelines covers the same subtypes of isolated MMA and PA as before. MMA is caused by a deficiency of the methylmalonyl‐CoA mutase enzyme (MMUT), either by a direct defect of the enzyme, or by a deficient synthesis of its cofactor adenosylcobalamin.
What is biochemical analysis for PA and MMA?
Biochemical analyses for MMA or PA can be used as an alternative or additional method in cases where the genetic results are inconclusive or not available.
Is health‐related quality of life impaired in MMA and PA patients?
While there is weak evidence suggesting that MMA and PA patients and their families have impaired HrQoL, there is not enough evidence to give recommendations on interventions to improve HrQoL in MMA and PA. We recommend considering health‐related quality of life a relevant outcome parameter in MMA and PA. Outcome: Health‐related quality of life.
When are monitoring investigations indicated in MMA and PA patients?
There is no strong evidence base as to when which monitoring investigations are indicated in MMA and PA patients. The panel recommends a slightly modified monitoring scheme compared to the initial guidelines (Table 5 ), which can guide clinical management but should be tailored to individual patients’ needs.