Cerebral CT Findings in Methylmalonic and Propionic Acidemias 955
نویسندگان
چکیده
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 lucencies and diffuse loss of brain substance. These findings correlated well with the clinical and pathologic findings. The leukoencephalopathy in these uncommon autosomal recessive conditions appears to be due to ketoacidosis, which in some cases may be managed by vitamin supplementation.
منابع مشابه
CT and MR of the brain in disorders of the propionate and methylmalonate metabolism.
PURPOSE To present the CT and MR findings in children with propionic and methylmalonic acidemia. METHODS Twenty-three new patients with methylmalonic and 20 with propionic acidemia were examined with CT and/or MR of the brain. In total 52 CT and 55 MR studies were done. Twenty-six previously published cases were also reviewed. RESULTS The findings were similar in the two syndromes. During t...
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...
متن کاملClinical outcome of major organic acidemias – A three years follow-up study
The term “organic acidemia” or “organic aciduria” (OA) applies to inborn errors of metabolism (IEM) in which organic acids accumulate in tissues and biological fluids. Classical organic acidurias include methylmalonic aciduria (MMA), propionic aciduria (PA), isovaleric aciduria (IVA) and maple syrup urine disease (MSUD). Aminoacidurias like phenylketonuria are common in the western population. ...
متن کاملMass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias
Organic acidemias (OAs) are inherited metabolic disorders caused by deficiency of enzymatic activities in the catabolism of amino acids, carbohydrates, or lipids. These disorders result in the accumulation of mono-, di-, or tricarboxylic acids, generally referred to as organic acids. The OA outcomes can involve different organs and/or systems. Some OA disorders are easily managed if promptly di...
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 کامل