We have a 9-old month infant with high level of blood Glycine. Urine for organic acids showed high levels of methyl malonic acid,, increased 3-OH-propionic acid & methyl citric acid. She has recurrent seizures, acidotic breathing and malnutrition. Her diet is Soya milk, boiled rice & vegetables.
"Methylmalonic acidemia (MMA) and propionic acidemia (PA) are defects of propionate metabolism caused by deficiencies in methylmalonyl-CoA mutase and propionyl-CoA carboxylase, respectively. The clinical phenotype includes vomiting, hypotonia, lethargy, apnea, hypothermia, and coma. The biochemical phenotype for MMA includes elevations of propionyl carnitine, methylmalonic acid, and methylcitric acid. Patients with PA will have elevations of propionyl carnitine and methylcitric acid with normal methylmalonic acid concentrations as the enzymatic defect is upstream of methylmalonic-CoA mutase."
What is her Vit B12 level?
General info on propionic acidemia: http://ghr.nlm.nih.gov/condition/propionic-acidemia.
Are tiglylglycine, and propionylglycine elevated in her urine? Glycine is elevated in the blood in PA.
Vitamin B 12 level was not measured (low-Resource setting).However she is having B 12 one mg intramuscular every 7days. Tiglylglycine, and propionylglycine were not measured.
Thanks Janice. I am trying to build up a dietary program, that also include a natural laxative to prevent constipation, as well as plenty of fluids. Parents always and rightly ask what will be the future outcome. Any suggestions ?
- Badges
- Science topic
- Similar topics
- Medicine
- Disease
- Metabolic Diseases