Creatine Deficiency
Mostrando 1-12 de 22 artigos, teses e dissertações.
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1. Guanidinoacetate Methyltransferase Deficiency: A Review of Guanidinoacetate Neurotoxicity
Abstract Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessively inherited disorder of the metabolism of creatine that leads to depleted levels of creatine and excessive concentrations of guanidinoacetate (GAA). Patients affected develop neurological symptoms during childhood, such as muscular hypotonia, involuntary extrapyramidal mo
J. inborn errors metab. screen.. Publicado em: 30/05/2019
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2. Estudo da toxicidade muscular pelo uso de estatinas em pacientes hipercolesterolêmicos: avaliação pela espectroscopia do hidrogênio por ressonância magnética / Study of muscle toxicity by use of statins in hypercholesterolemic patients: evaluation by proton magnetic resonance spectroscopy
Cardiovascular disease is the leading cause of death in the western world and statins are the most prescribed medications for prevention and treatment. Despite being the most prescribed drugs, they are still under-used. The main cause of interruption of statin treatment is myopathy. Among the mechanisms involved in the pathophysiology of myotoxicity, deficie
IBICT - Instituto Brasileiro de Informação em Ciência e Tecnologia. Publicado em: 13/11/2012
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3. Biochemical diagnosis of creatine deficiency syndromes / Diagnóstico bioquímico das síndromes de deficiência de creatina
Recently, a new group of inborn errors of metabolism, collectively named as creatine deficiency syndrome, was identified. Three genetically determined presentations are currently known, affecting both creatine synthesis and transport. Clinical presentation spectrum is non-specific and includes developmental delay, hypotonia, involuntary movements as choreoat
Publicado em: 2010
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4. Effect of dietary magnesium deficiency on oxidative metabolism in tissues of rats submitted to exercise training / Efeito da deficiência dietética de magnésio no metabolismo oxidativo de tecidos de ratos submetidos a protocolo de treinamento periodizado
This study aimed to verify if the ingestion of a diet poor in magnesium alters the oxidative metabolism in rats submitted to moderate physical activity. Male Wistar rats (initial body mass of 280 g) were divided into 4 groups: control (CON, n=9), exercised control (CONEX, n=9), deficient in Mg (MARG, n=9), and exercised and deficient in Mg (EXMARG, n=9). The
Publicado em: 2007
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5. X-Linked Creatine-Transporter Gene (SLC6A8) Defect: A New Creatine-Deficiency Syndrome
We report the first X-linked creatine-deficiency syndrome caused by a defective creatine transporter. The male index patient presented with developmental delay and hypotonia. Proton magnetic-resonance spectroscopy of his brain revealed absence of the creatine signal. However, creatine in urine and plasma was increased, and guanidinoacetate levels were normal
The American Society of Human Genetics.
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6. X-Linked Mental Retardation with Seizures and Carrier Manifestations Is Caused by a Mutation in the Creatine-Transporter Gene (SLC6A8) Located in Xq28
A family with X-linked mental retardation characterized by severe mental retardation, speech and behavioral abnormalities, and seizures in affected male patients has been found to have a G1141C transversion in the creatine-transporter gene SLC6A8. This mutation results in a glycine being replaced by an arginine (G381R) and alternative splicing, since the G�
The American Society of Human Genetics.
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7. Combined partial deficiency of muscle carnitine palmitoyltransferase and carnitine with autosomal dominant inheritance.
The authors studied a 53 year old woman and her 22 year old son with episodes of paroxysmal muscle cramps and dark urines lasting several hours related to high fat diet and strenuous physical exercise beginning on both at age 14 years. The father, paternal uncle, paternal grandfather and another son of the mother also had paroxysmal muscle cramps. The two st
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8. Exertional rhabdomyolysis in a patient with calcium adenosine triphosphatase deficiency.
A patient with exertional rhabdomyolysis and continuously elevated serum creatine kinase (CK) was investigated. The known causes of recurrent attacks of rhabdomyolysis were ruled out by appropriate histochemical and biochemical investigations. During ischaemic exercise tests an abnormal K(+)-efflux from exercising muscles was observed. The patient was found
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9. Visual Hallucinations in a Patient with Adult Onset Acid Maltase Deficiency Disorder
A 66-year-old male presented with visual hallucinations. He had chronically elevated serum creatine kinase (CK) levels without muscle weakness. His hospital course was complicated by hypercapnic respiratory failure requiring mechanical ventilation. His hallucinations completely subsided on mechanical ventilation. Elevated CK levels prompted a muscle biopsy,
Springer-Verlag.
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10. Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies.
Reported cases of carnitine palmitoyltransferase II (CPT II) deficiency are characterized only by a muscular symptomatology in young adults although the defect is expressed in extra-muscular tissues as well as in skeletal muscle. We describe here a CPT II deficiency associating hypoketotic hypoglycemia, high plasma creatine kinase level, heart beat disorders
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11. Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
Deficiency of the enzymes of mitochondrial fatty acid oxidation and related carnitine dependent steps have been shown to be one of the causes of the fasting-induced hypoketotic hypoglycemia. We describe here carnitine-acylcarnitine translocase deficiency in a neonate who died eight days after birth. The proband showed severe fasting-induced hypoketotic hypog
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12. Gyrate atrophy of the choroid and retina with hyperornithinemia. Deficient formation of guanidinoacetic acid from arginine.
Patients with gyrate atrophy of the choroid and retina have 10- to 20-fold increased ornithine concentrations in body fluids and significantly reduced activity of ornithine aminotransferase in lymphocytes and cultured fibroblasts. We administered intravenous arginine to six patients and six controls to study in vivo inhibition by high ornithine concentration