Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

2004 ◽  
Vol 11 (8) ◽  
pp. 919-924 ◽  
Author(s):  
S. Vielhaber ◽  
H. Feistner ◽  
J. Weis ◽  
J. Kreuder ◽  
M. Sailer ◽  
...  
Keyword(s):  
Clinical Course ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Primary Carnitine Deficiency

Muscle carnitine deficiency: adult onset lipid storage myopathy with sensory neuropathy

2009 ◽  
Vol 31 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Wei Zhang ◽  
Jianting Miao ◽  
Guangyun Zhang ◽  
Rui Liu ◽  
Dawei Zhang ◽  
...  
Keyword(s):  
Sensory Neuropathy ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Muscle Carnitine Deficiency

Short-Chain Acyl-CoA Dehydrogenase Deficiency Associated with a Lipid-Storage Myopathy and Secondary Carnitine Deficiency

1984 ◽  
Vol 311 (19) ◽  
pp. 1232-1236 ◽  
Author(s):  
Douglass M. Turnbull ◽  
Kim Bartlett ◽  
David L. Stevens ◽  
K. George M. M. Alberti ◽  
G. John Gibson ◽  
...  
Keyword(s):  
Dehydrogenase Deficiency ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Short Chain ◽  
Lipid Storage Myopathy ◽  
Chain Acyl

Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset

Neurology ◽  
1986 ◽  
Vol 36 (3) ◽  
pp. 367-367 ◽  
Author(s):  
M. de Visser ◽  
H. R. Scholte ◽  
R.B.H. Schutgens ◽  
P. A. Bolhuis ◽  
I. E.M. Luyt-Houwen ◽  
...  
Keyword(s):  
Glutaric Aciduria Type ◽  
Lipid Storage ◽  
Type Ii ◽  
Adult Onset ◽  
Lipid Storage Myopathy ◽  
Glutaric Aciduria ◽  
Glutaric Aciduria Type Ii

scholarly journals Fatal cases of lipid storage myopathy with carnitine deficiency.

1977 ◽  
Vol 40 (2) ◽  
pp. 170-178 ◽  
Author(s):  
F Cornelio ◽  
S Di Donato ◽  
D Peluchetti ◽  
A Bizze ◽  
B Bertagnolio ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

scholarly journals Metabolic lipid muscle disorders: biomarkers and treatment

2019 ◽  
Vol 12 ◽  
pp. 175628641984335 ◽  
Author(s):  
Corrado Angelini ◽  
Elena Pennisi ◽  
Sara Missaglia ◽  
Daniela Tavian
Keyword(s):  
Metabolic Disorders ◽  
Treatment Options ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Therapeutic Interventions ◽  
Muscle Disorders ◽  
Genetic Abnormalities ◽  
Transferase Deficiency ◽  
Primary Carnitine Deficiency ◽  
Carnitine Palmitoyl Transferase Deficiency

Lipid storage myopathies (LSMs) are metabolic disorders of the utilization of fat in muscles due to several different defects. In this review, a molecular update of LSMs is presented and recent attempts of finding treatment options are discussed. The main topics discussed are: primary carnitine deficiency, riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, neutral lipid storage disorders and carnitine palmitoyl transferase deficiency. The most frequent presentations and genetic abnormalities are summarized. We present their diagnosis utilizing biomedical and morphological biomarkers and possible therapeutic interventions. The treatment of these metabolic disorders is a subject of active translational research but appears, in some cases, still elusive.

A Case of Lipid Storage Myopathy with Carnitine Deficiency

1977 ◽  
Vol 16 (1-6) ◽  
pp. 222-229 ◽  
Author(s):  
G. Scarlato ◽  
M.G. Albizzati ◽  
S. Bassi ◽  
C. Cerriand ◽  
L. Frattoh
Keyword(s):  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

A hereditary case of lipid storage myopathy with carnitine deficiency

1980 ◽  
Vol 223 (2) ◽  
pp. 73-84 ◽  
Author(s):  
G. Pellegrini ◽  
G. Scarlato ◽  
M. Moggio
Keyword(s):  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy

Muscle carnitine deficiency and lipid storage myopathy in patients with mitochondrial myopathy

1993 ◽  
Vol 16 (7) ◽  
pp. 778-781 ◽  
Author(s):  
Yolanda Campos ◽  
Rosa Huertas ◽  
Juan Bautista ◽  
Eduardo Gutierrez ◽  
Manuel Aparicio ◽  
...  
Keyword(s):  
Mitochondrial Myopathy ◽  
Carnitine Deficiency ◽  
Lipid Storage ◽  
Lipid Storage Myopathy ◽  
Muscle Carnitine Deficiency
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