TY - JOUR
T1 - Metabolism and energy requirements in pantothenate kinase-associated neurodegeneration
AU - Williams, Sarah
AU - Gregory, Allison
AU - Hogarth, Penelope
AU - Hayflick, Susan J.
AU - Gillingham, Melanie B.
N1 - Funding Information:
We are grateful to the patients and their families for their participation, enthusiasm and support. This work was funded by the NBIA Disorders Association and made possible with support from the Oregon Clinical and Translational Research Institute (OCTRI) , grant number TL1 RR024159 from the National Center for Research Resources (NCRR), a component of the National Institutes of Health (NIH) , and NIH Roadmap for Medical Research . This work was also supported by PHS Grants 1R01 EY12353 and 5M01 RR000334 . We are grateful to Cary Harding, Robert Steiner, Louise Merkens, Anuradha Pappu and Mike Lasarev for their assistance and helpful discussions.
PY - 2013/11
Y1 - 2013/11
N2 - Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder of coenzyme A homeostasis caused by defects in the mitochondrial pantothenate kinase 2. Patients with PKAN present with a progressive neurological decline and brain iron accumulation, but general energy balance and nutrition status among these patients has not been reported. To determine if defects in PANK2 change basic energy metabolism in humans, we measured body composition, resting energy expenditure, dietary intake, and blood metabolites among 16 subjects with PKAN. Subjects had a broad range of disease severity but, despite the essential role of coenzyme A in energy metabolism, the subjects had remarkably normal body composition, dietary intake and energy metabolism compared to population normal values. We did observe increased resting energy expenditure associated with disease severity, suggesting increased energy needs later in the disease process, and elevated urinary mevalonate levels.
AB - Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder of coenzyme A homeostasis caused by defects in the mitochondrial pantothenate kinase 2. Patients with PKAN present with a progressive neurological decline and brain iron accumulation, but general energy balance and nutrition status among these patients has not been reported. To determine if defects in PANK2 change basic energy metabolism in humans, we measured body composition, resting energy expenditure, dietary intake, and blood metabolites among 16 subjects with PKAN. Subjects had a broad range of disease severity but, despite the essential role of coenzyme A in energy metabolism, the subjects had remarkably normal body composition, dietary intake and energy metabolism compared to population normal values. We did observe increased resting energy expenditure associated with disease severity, suggesting increased energy needs later in the disease process, and elevated urinary mevalonate levels.
KW - Coenzyme A
KW - Hallervorden-Spatz syndrome
KW - PKAN
KW - Pantothenate kinase-associated neurodegeneration
KW - Resting energy expenditure
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U2 - 10.1016/j.ymgme.2013.06.017
DO - 10.1016/j.ymgme.2013.06.017
M3 - Article
C2 - 23891537
AN - SCOPUS:84885426226
SN - 1096-7192
VL - 110
SP - 336
EP - 341
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 3
ER -