Organic Acidurias: An Updated Review

Organic acidurias are an important class of inherited metabolic disorders arising due to defect in intermediary metabolic pathways of carbohydrate, amino acids and fatty acid oxidation. This review summarizes the current knowledge about the important organic acidurias in the Indian population. Specifically, diagnosis and principles of treatment of organic acidurias are covered. The salient features of common organic acidurias as well as their prevalence in various parts of the world are reviewed in some detail.     

Diagnosis of Major Organic Acidurias in Children: Two Years Experience at a Tertiary Care Centre

Organic acid disorders are inherited metabolic disorders in which organic acids accumulate in tissues and biological fluids of affected individuals. Classical organic acidurias include methylmalonic aciduria, propionic aciduria, isovaleric aciduria and maple syrup urine disease (MSUD). They are considered the most frequent metabolic disorders among severely ill children. Patients frequently present with acute symptoms early in life. 420 cases clinically suspected to have organic aciduria, with upper age limit of 12 years for a 2-year period (January 2007–December 2008) were enrolled into this study. Metabolic acidosis and neurological symptoms were the most common signs. Screening tests and thin layer chromatography were done for detection of organic acidurias. Identification and quantitation of organic acids in urine and quantification of amino acids in blood were done by high performance liquid chromatography. Out of 420 patients, 45 patients (10.7%) were found to have organic acidurias. 15 cases of methylmalonic aciduria, 16 cases of propionic aciduria, 13 cases of MSUD, and one case of isovaleric aciduria were diagnosed. Results demonstrate the importance of testing for organic acidurias. Since organic aciduria may cause irreversible brain damage if not treated, we recommend selective screening amongst severely ill children despite implied extra costs.     

Consistency of Angoff-Based Standard-Setting Judgments: Are Item Judgments and Passing Scores Replicable Across Different Panels of Experts?

Angoff-based standard setting is widely used, especially for high-stakes licensure assessments. Nonetheless, some critics have claimed that the judgment task is too cognitively complex for panelists, whereas others have explicitly challenged the consistency in (replicability of) standard-setting outcomes. Evidence of consistency in item judgments and passing scores is necessary to justify using the passing scores for consequential decisions. Few studies, however, have directly evaluated consistency across different standard-setting panels. The purpose of this study was to investigate consistency of Angoff-based standard-setting judgments and passing scores across 9 different educator licensure assessments. Two independent, multistate panels of educators were formed to recommend the passing score for each assessment, with each panel engaging in 2 rounds of judgments. Multiple measures of consistency were applied to each round of judgments. The results provide positive evidence of the consistency in judgments and passing scores.