PROPIONYL CoA CARBOXYLASE ACTIVITY OF OBLIGATE HETEROZYGOTE FOR PROPIONIC ACIDEMIA
نویسندگان
چکیده
منابع مشابه
L-carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia.
Treatment with L-carnitine greatly enhanced the formation and excretion of short-chain acylcarnitines in three patients with propionic acidemia and in three normal controls. The use of fast atom bombardment mass spectrometry and linked scanning at constant magnetic (B) to electric (E) field ratio identified the acylcarnitine as propionylcarnitine in patients with propionic acidemia. The normal ...
متن کاملThe relationship between plasma biotin concentration and circulating leucocyte beta-methylcrotonyl-CoA carboxylase and propionyl-CoA carboxylase.
1. A newly developed biotin assay was used to monitor plasma and urinary biotin concentration after the oral administration of biotin. 2. In two normal subjects, leucocyte propionyl-CoA carboxylase and beta-methylcrotonyl-CoA carboxylase were markedly stimulated after the administration of biotin.
متن کاملNatural history of propionic acidemia.
Propionic acidemia is an organic acidemia that can lead to metabolic acidosis, coma and death, if not treated appropriately in the acute setting. Recent advancements in treatment have allowed patients with propionic acidemia to live beyond the neonatal period and acute presentation. The natural history of the disease is just beginning to be elucidated as individuals reach older ages. Recent stu...
متن کاملAtypical presentations of propionic acidemia
One of the most common recessively inherited organic acidemias is the Propionic Acidosis (PA) which results from Propionyle-CoA Carboxylase (PCC) enzyme deficiency that is necessary for the catabolism of the branched chain Amino Acids and other metabolites. Classically this disease presented with high anion gap metabolic acidosis with its clinical consequences. We report 4 patients who presente...
متن کاملEffects of biotin on pyruvate carboxylase, acetyl-CoA carboxylase, propionyl-CoA carboxylase, and markers for glucose and lipid homeostasis in type 2 diabetic patients and nondiabetic subjects.
BACKGROUND Several studies have shown that biotin affects glucose homeostasis. Serum biotin concentrations are lower in subjects with type 2 diabetes than in control subjects. Lymphocyte propionyl-CoA carboxylase (PCC; EC 6.4.1.3) activity has proved to be a sensitive indicator of biotin status that is more accurate than is serum biotin concentration. OBJECTIVE We studied the activity of PCC,...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1984
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198404001-01238