METHYLMALONIC ACIDEMIA/ PROPIONIC ACIDEMIA (MMA/PA)
MMA/PA Full Form: Methylmalonic Acidemia/ Propionic Acidemia
Prevalence of MMA/PA in India: With increasing awareness of newborn screening in India, detection of MMA/PA has strengthened. In some populations across the world, the incidence of MMA/PA is much higher. For example, PA incidence in Saudi Arabia is reported to be much higher at 1 in 2,000 to 5,000 live births.
Methylmalonic Acidemia/ Propionic Acidemia Definition:
Valine, isoleucine, threonine and methionine are the 4 amino acids involved in propionate catabolism of the body. With an enzyme deficiency, 3-hydroxypropionic acid, methylcitric acid and/or methylmalonic acid in blood, urine and other body fluids accumulates. This is the meaning of Methylmalonic Acidemia/ Propionic Acidemia
Methylmalonic/Propionic Acidemia Causes:
Methylmalonic and propionic acidemia (MMA/PA) are autosomal recessive disorders of propionate catabolism caused by defects in the enzymes methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC) characterized by accumulation of metabolites of branched chain amino acid catabolism such as 3-hydroxypropionic acid, methylcitric acid and/or methylmalonic acid in plasma, urine and other body fluids.
Methylmalonic/Propionic Acidemia Symptoms:
In the classical, neonatal onset form of MMA/PA, symptoms start as early as the second day of life with acute deterioration of the general clinical condition, vomiting, dehydration, weight loss, temperature instability, neurological involvement with muscular hypo- or hypertonia, irritability, lethargy progressing to coma and seizures After the neonatal period, symptoms of MMA/PA may vary considerably and affect different organ systems such as the nervous system, gastrointestinal tract, immune system, heart (mainly in PA) and kidney (mainly in MMA).
Methylmalonic/Propionic Acidemia Test:
MMA/PA patients are diagnosed by screening with tandem mass spectrometry (TMS). 5 drops of blood are taken from the baby’s heel and collected on special filter paper. Infant must be 48 hours of age or older to obtain a satisfactory sample for screening. Ideal time is 4 days of age. Sample should be taken prior to administering antibiotics or transfusing blood or blood products.
TMS being the primary test should always be backed with a GCMS (Gas chromatography mass spectrometry) test to reconfirm the diagnosis. GC-MS is gold standard technology for confirming Methylmalonic/Propionic Acidemia disorder.
Methylmalonic/Propionic Acidemia Treatment:
When the 4 amino acids, threonine, isoleucine, methionine and valine; from the diet exceeds the patient’s threshold, it saturates the blood-brain barrier and can cause cognitive delay, neuropathy and delayed growth and development milestones. When these levels are managed, however, all these complications can be avoided.
The mainstay of nutrition therapy is a low protein intake, limiting but ensuring essential requirements of the propionic acid precursor amino acids, isoleucine, valine, methionine, and threonine to reduce elevated concentrations of metabolites.
MMA/PA Diet in India:
The aim is to prevent endogenous catabolism, i.e. protein catabolism, whilst providing enough energy to meet metabolic demands.
Amino acid formulae made without isoleucine, valine, methionine, and is imperative to prevent muscle proteins from breaking down for energy utilization, especially on a low protein diet. This aids in maintenance of the body weight & development. Hence, MMA/PA patients require special diets. Pristine Organics offers specialized diets at 15% and 48% Protein levels depending on MMA/PA patients’ needs in India. The optimum amount of Pristine Balance Metanutrition MMA/PA diet is calculated based on the child’s age and body weight and is constantly adapted to his or her needs.
For weight gain and developmental growth, additional sources of nutrition are essential. Protein free calorie rich formulae, nutridense and low protein foods need to be given to meet 100-125% of the RDA per age.
Protein tolerance should be titrated individually. It is based on adequate energy supply combined with avoidance of prolonged fasting and reduced intake of precursor amino acids through a restricted natural protein diet, commonly supplemented with precursor-free synthetic amino acids.
Providing education and support for the family is the key to a successful long range of therapy. Effective treatment is best achieved by a team of specialists such as your Physician, Nutritionist, Geneticist, Neurologist, and Psychologist.
A healthy MMA/PA life expectancy can be foreseen with a wholesome approach including a watchful diet, medical support and optimal nutrient supplement.