Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

N Preisler; M C Orngreen; A Echaniz-Laguna; P Laforet; E Lonsdorfer-Wolf; S Doutreleau; B Geny; H O Akman; S Dimauro; J Vissing

doi:10.1212/WNL.0b013e31824365f9

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

N Preisler, M C Orngreen, A Echaniz-Laguna, P Laforet, E Lonsdorfer-Wolf, S Doutreleau, B Geny, H O Akman, S Dimauro, J Vissing

Department of Neurology

43 Citations (Scopus)

Abstract

To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).

Original language	English
Journal	Neurology
Volume	78
Issue number	4
Pages (from-to)	265-8
Number of pages	4
ISSN	0028-3878
DOIs	https://doi.org/10.1212/WNL.0b013e31824365f9
Publication status	Published - 2012

Keywords

Adult
Aged
Ammonia
Biopsy
Carbohydrate Metabolism
Creatine Kinase
Exercise
Exercise Test
Forearm
Genetic Variation
Glycogen
Glycogen Storage Disease
Glycogen Storage Disease Type V
Glycogenolysis
Humans
Ischemia
Lactates
Lipid Metabolism
Male
Muscle, Skeletal
Oxygen Consumption
Pain
Phenotype
Phosphorylase Kinase
Regional Blood Flow

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10.1212/WNL.0b013e31824365f9

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title = "Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?",

abstract = "To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).",

keywords = "Adult, Aged, Ammonia, Biopsy, Carbohydrate Metabolism, Creatine Kinase, Exercise, Exercise Test, Forearm, Genetic Variation, Glycogen, Glycogen Storage Disease, Glycogen Storage Disease Type V, Glycogenolysis, Humans, Ischemia, Lactates, Lipid Metabolism, Male, Muscle, Skeletal, Oxygen Consumption, Pain, Phenotype, Phosphorylase Kinase, Regional Blood Flow",

author = "N Preisler and Orngreen, \{M C\} and A Echaniz-Laguna and P Laforet and E Lonsdorfer-Wolf and S Doutreleau and B Geny and Akman, \{H O\} and S Dimauro and J Vissing",

year = "2012",

doi = "10.1212/WNL.0b013e31824365f9",

language = "English",

volume = "78",

pages = "265--8",

journal = "Neurology",

issn = "0028-3878",

publisher = "Lippincott Williams and Wilkins",

number = "4",

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TY - JOUR

T1 - Muscle phosphorylase kinase deficiency

T2 - a neutral metabolic variant or a disease?

AU - Preisler, N

AU - Orngreen, M C

AU - Echaniz-Laguna, A

AU - Laforet, P

AU - Lonsdorfer-Wolf, E

AU - Doutreleau, S

AU - Geny, B

AU - Akman, H O

AU - Dimauro, S

AU - Vissing, J

PY - 2012

Y1 - 2012

N2 - To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).

AB - To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD).

KW - Adult

KW - Aged

KW - Ammonia

KW - Biopsy

KW - Carbohydrate Metabolism

KW - Creatine Kinase

KW - Exercise

KW - Exercise Test

KW - Forearm

KW - Genetic Variation

KW - Glycogen

KW - Glycogen Storage Disease

KW - Glycogen Storage Disease Type V

KW - Glycogenolysis

KW - Humans

KW - Ischemia

KW - Lactates

KW - Lipid Metabolism

KW - Male

KW - Muscle, Skeletal

KW - Oxygen Consumption

KW - Pain

KW - Phenotype

KW - Phosphorylase Kinase

KW - Regional Blood Flow

UR - https://www.scopus.com/pages/publications/84857711328

U2 - 10.1212/WNL.0b013e31824365f9

DO - 10.1212/WNL.0b013e31824365f9

M3 - Journal article

C2 - 22238410

SN - 0028-3878

VL - 78

SP - 265

EP - 268

JO - Neurology

JF - Neurology

IS - 4

ER -

Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

Abstract

Keywords

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