Some examples include GAA (Pompe disease), HLCS (Holocarboxylase synthetase deficiency), ABCD1 (X-linked adrenoleukodystrophy), PC (Pyruvate carboxylase deficiency), UBE3A (Angelman syndrome), ASL (Argininosuccinic aciduria), or ZFYVE26 (Spastic paraplegia 15) (Additional file3: Table S2). The gene discussed is ABCD1; the disease is pyruvate carboxylase deficiency disease.