نتایج جستجو برای: creatine deficiency syndrome

تعداد نتایج: 748934  

Journal: :The Journal of biological chemistry 1951
R S MELVILLE J P HUMMEL

As is well known, many animals, when deprived of vitamin E (cr-tocopherol), develop a paralysis of the voluntary muscles (1). The partly grown rabbit becomes completely helpless in 3 to 4 weeks. The progress of the disease is characterized by histological changes and alterations in chemical composition. Thus muscle creatine declines considerably (2), in rats even before any abnormality in struc...

Journal: :Journal of Medicine, University of Santo Tomas 2023

Vitamin B12 deficiency has long been known to present with various neurological manifestations, but only rarely presents as movement disorders, especially in adults. We the case of a 30-year-old vegan male presenting tremors on both legs when standing which was relieved by vitamin supplementation. To best our knowledge, this is first documented slow orthostatic tremor or pseudo-orthostatic caus...

Journal: :The New England journal of medicine 2005
Michèl A A P Willemsen Ron A Wevers Marcel M Verbeek

to the editor: Ramaekers et al. (May 12 issue)1 report 28 patients with the cerebral folate deficiency syndrome characterized by decreased levels of 5-methyltetrahydrofolate (5MTHF) in the cerebrospinal fluid caused by autoantibodies’ blocking of folate transport into the brain. The patients benefited from folinic acid supplementation. The clinical features of this syndrome fit with other neuro...

Journal: :Journal of the neurological sciences 2006
Haruki Koike Hirohisa Watanabe Akira Inukai Masahiro Iijima Keiko Mori Naoki Hattori Gen Sobue

BACKGROUND Tenderness in the limb muscles has been reported anecdotally in patients with beriberi neuropathy, but clinical effects of thiamine deficiency on skeletal muscle have received little attention. OBJECTIVE To describe a patient with thiamine deficiency who manifested myopathic symptoms and responded well to thiamine supplementation. PATIENT A 26-year-old woman with neuropathy and h...

2016
Wan Hazlin Zaini Fabrizio Giuliani Christian Beaulieu Sanjay Kalra Christopher Hanstock Joseph Najbauer

BACKGROUND/OBJECTIVE The underlying mechanism of fatigue in multiple sclerosis (MS) remains poorly understood. Our study investigates the involvement of the ascending reticular activating system (ARAS), originating in the pontine brainstem, in MS patients with symptoms of fatigue. METHODS Female relapsing-remitting MS patients (n = 17) and controls (n = 15) underwent a magnetic resonance spec...

Journal: :The Journal of biological chemistry 1953
J A STEKOL S WEISS P SMITH K WEISS

The deficiency of folic acid in the rat produced a reduction in the utilization of either the a-carbon of glycine or the P-carbon of serine for the synthesis of both moieties of choline. On the other hand, the deficiency in vitamin Blz reduced the incorporation of only the a-carbon of glycine; the utilization of the P-carbon of serine was not affected (1). From these data we concluded that vita...

Creatine exerts beneficial effects on a variety of pathologies in which energy metabolism and oxidative stress play an etiological role. Creatine supplements have shown beneficial effects on neurological disorders including Parkinson's disease, Huntington's disease, amyotrophic lateral sclerosis, Alzheimer's disease and stroke. However, the potential benefits of creatine for patients with convu...

Journal: :Clinical chemistry 1990
H Deguchi N Sugiyama H Kawamura T Uemura A Shimizu M Yamamoto

A stout man was admitted to the hospital with acute rhabdomyolysis associated with macro creatine kinase (macro-CK, EC 2.7.3.2). This anomaly of CK was detected by gel electrophoresis as an atypical band between CK-MB and CK-MM, classified according to Stein's criteria (Clin Chem 1982; 28:19-24) as type 1, and identified by immunofixation electrophoresis as containing CK isoenzymes MM and MB an...

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