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Table 1 Demographic, clinical, and genetic information of the SA MADD cohort

From: Clinical, biochemical, and genetic spectrum of MADD in a South African cohort: an ICGNMD study

  1. The MADD-DS3 score [6] increases with disease severity and reflects the clinical symptoms exhibited during decompensation. Consequently, it is affected by the time elapsed (and thus the progression of symptoms) from presentation to successful diagnosis. The MADD-DS3 score is used as a guide only and is not an absolute indication of the degree of pathogenicity of a variant. Red, yellow, and green: high, moderate, and low MADD-DS3 scores within the cohort, respectively
  2. Abbreviations: + Present and validated, CNS Central nervous system, D and number Age in days, ETFDH Electron transfer flavoprotein-ubiquinone oxidoreductase gene (NM_004453.4), F Female, M Male, M and number Age in months, MADD-DS3 Multiple acyl-CoA dehydrogenase deficiency-disease severity 3, n Number of patients, PNS Peripheral nervous system, Rb Riboflavin, Y and number Age in years
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172