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Table 2 Diagnostic urine MADD metabolites of the SA MADD cohort

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

  1. §The average weighted mean of adipic acid (C6), suberic acid (C8), and sebacic acid (C10) is given
  2. †Acylcarnitine and amino acid assessments are typically conducted on plasma/serum, but this matrix was limited due to sample stability (collection ranged over a 30-year period)
  3. ‡Increased free carnitine is beneficial and promotes fatty acid conjugation and release. Likewise, elevated acylcarnitine conjugates indicate sufficient detoxification
  4. Values represent the number of times a metabolite is increased above the reference range, as a weighted mean of each group (≥ 3: severely elevated; ≥ 2: elevated; > 1: slightly elevated; ≤ 1: normal). Metabolites due to secondary consequences are not reported. Red, yellow, and green: high, moderate, and low values, respectively
  5. Abbreviations: n Number of patients, Rb riboflavin, s Number of available samples, Tr Treated; Untr Untreated
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172