Fig. 4: FAOD (fatty acid oxidation disorders) diagnosis in adolescents and adults.
From: Improving diagnosis of mitochondrial fatty-acid oxidation disorders
AC acylcarnitine, AMP adenosine monophosphate deaminase deficiency, CK creatinine kinase, DBS dried blood spot, FAD flavine adenine dinucleotide, FADS FAD synthase deficiency, GSD glycogen storage disorder, LPIN1 phosphatidate phosphatase-1 deficiency, MFT mitochondrial FAD transporter deficiency, musc. GSD other muscular glycogen storage disorders, PGM1-CGD phosphoglucomutase 1 deficiency, RYR1 ryanodine receptor 1 deficiency, TANGO2 transport and Golgi organisation 2 deficiency. The definitions for fatty acid oxidation disorders abbreviations (in blue) are given in Table 1. Note that molecular testing should be preferred to muscle biopsy when available.
