Pilot study of mitochondrial bioenergetics in subjects with acute porphyrias

• Published in: Molecular genetics and metabolism Vol. 128; no. 3; pp. 228 - 235
• Main Authors: Dixon, Natalia, Li, Ting, Marion, Brandon, Faust, Denise, Dozier, Stephen, Molina, Anthony, Rudnick, Sean, Bonkovsky, Herbert L.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.11.2019
• Subjects: 5-aminolevulinic acid; Adenosine Triphosphate - biosynthesis; Adult; Aged; Aged, 80 and over; Blood Platelets - metabolism; Blood Platelets - pathology; Coproporphyria, Hereditary - blood; Coproporphyria, Hereditary - pathology; Electron Transport; Energy Metabolism; Female; Heme; Heme - biosynthesis; Humans; Infant; Leukocytes, Mononuclear - metabolism; Leukocytes, Mononuclear - pathology; Male; Middle Aged; Mitochondria - metabolism; Mitochondria - pathology; Mitochondrial electron transport; Oxygen - metabolism; Oxygen consumption rate; Pilot Projects; Porphobilinogen; Porphyria, Acute Intermittent - blood; Porphyria, Acute Intermittent - pathology; Mitochondrial electron transport; AIP; AHP; Oxygen consumption rate; FCCP; PBGD; Porphobilinogen; HCP; PBG; ALA; Heme; HMBS; Electron transport; 5-aminolevulinic acid; OCR

The acute porphyrias are characterized by defects in heme synthesis, particularly in the liver. In some affected patients, there occurs a critical deficiency in a regulatory heme pool within hepatocytes that leads to up-regulation of 5-aminolevulinic acid [ALA] synthase-1, which is the first and nor...