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Entry Name Description Category Pathway Gene
H00525 Disorders of mitochondrial fatty-acid oxidation Disorders of mitochondrial fatty-acid oxidation are a group of rare inherited conditions that lead to accumulation of fatty acids and decreases in cell energy metabolism due to enzyme or transporter defects ... Inherited metabolic disorder (MCAD) ACADM [HSA:34] [KO:K00249]
(SCAD) ACADS [HSA:35] [KO:K00248]
(VLCAD) ACADVL [HSA:37] [KO:K09479]
(MTP) HADHA [HSA:3030] [KO:K07515]
(MTP) HADHB [HSA:3032] [KO:K07509]
(CPT I) CPT1A [HSA:1374] [KO:K08765]
(CPT II) CPT2 [HSA:1376] [KO:K08766]
(CACT) SLC25A20 [HSA:788] [KO:K15109]
(CDSP) SLC22A5 [HSA:6584] [KO:K08202]
(HAD) HADH [HSA:3033] [KO:K00022]
(DECR) NADK2 [HSA:133686] [KO:K00858]
(ACAD9) ACAD9 [HSA:28976] [KO:K15980]
(ECHS1) ECHS1 [HSA:1892] [KO:K07511]
H01589 Systemic primary carnitine deficiency ... long-chain fatty acids into the mitochondria for beta-oxidation. This disease is caused by mutations in SLC22A5 that encodes the high-affinity sodium-dependent carnitine transporter, organic cation transporter ... Inherited metabolic disorder (CDSP) SLC22A5 [HSA:6584] [KO:K08202]
H02596 Disorders of carnitine transport and the carnitine cycle Carnitine plays an essential role in the transfer of long-chain fatty acids across the inner mitochondrial membrane. Disorders of carnitine transport and the carnitine cycle are congenital defects of enzymes ... Inherited metabolic disorder CPT1A [HSA:1374] [KO:K08765]
CPT2 [HSA:1376] [KO:K08766]
SLC25A20 [HSA:788] [KO:K15109]
SLC22A5 [HSA:6584] [KO:K08202]
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