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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

Fig. 2

Characteristics of the identified GLs and RCs. a Number of the GLs and RCs selected for each group of disorders. b Number of disorders belonging to each group. c Percentage of disorders for which 1 to 8 different GLs and RCs were identified. A: amino acid and organic acid metabolism (n = 8); B: Purine, pyrimidine and neurotrasmitter metabolism (n = 0); C: carbohydrate metabolism (n = 9); D: lipid metabolism (n = 0); E: vitamin and non protein cofactor metabolism and transport (n = 2); F: porphyrin and hem metabolism (n = 1); G: mineral absorption and transport (n = 5); H: energy metabolism (n = 3); I: lysosomal and lysosomal-related organelles (n = 27); J: peroxisomes (n = 0)

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