Methylmalonic and propionic acidemias: clinical management update
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چکیده
منابع مشابه
Cerebral CT Findings in Methylmalonic and Propionic Acidemias 955
The cerebral computed tomographic findings in two infants with methylmalonic acidemia and one infant and one adult with propionic acidemia are presented. Pertinent metabolic, clinical, and pathologic features of these genetic disorders of vitamin B'2 (cobalamin) and biotin metabolism are reviewed briefly. Computed tomographic abnormalities consist of focal or diffuse deep cerebral hemisphere lu...
متن کاملOptic neuropathy in methylmalonic acidemia and propionic acidemia.
BACKGROUND Methylmalonic acidemia (MMA) and propionic acidemia (PA) are rare hereditary disorders of protein metabolism, manifesting early in life with ketoacidosis and encephalopathy and often resulting in chronic complications. Optic neuropathy (ON) has been increasingly recognised in both conditions, mostly through isolated case reports or small cases series. We here report the clinical feat...
متن کاملProposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Methylmalonic and propionic acidemia (MMA/PA) are inborn errors of metabolism characterized by accumulation of propionic acid and/or methylmalonic acid due to deficiency of methylmalonyl-CoA mutase (MUT) or propionyl-CoA carboxylase (PCC). MMA has an estimated incidence of ~ 1: 50,000 and PA of ~ 1:100'000 -150,000. Patients present either shortly after birth with acute deterioration, metabolic...
متن کاملRapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns.
homocysteine metabolism or whether increased tHcy may be attributable to impaired renal function or higher prevalence of other confounders in these individuals. Serum creatinine is the most important predictor of tHcy, whereas serum folate had only minor influence. Avoidable, unhealthy lifestyle factors (e.g., smoking and obesity) and associated diseases (e.g., diabetes, hypertension, and hyper...
متن کاملSimultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
BACKGROUND AND AIMS Increased propionylcarnitine levels in newborn screening are indicative for a group of potentially severe disorders including propionic acidemia (PA), methylmalonic acidemias and combined remethylation disorders (MMACBL). This alteration is relatively non-specific, resulting in the necessity of confirmation and differential diagnosis in subsequent tests. Thus, we aimed to de...
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ژورنال
عنوان ژورنال: Current Opinion in Pediatrics
سال: 2016
ISSN: 1040-8703,1531-698X
DOI: 10.1097/mop.0000000000000422