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Tuesday, July 21, 2020 | History

4 edition of Clinical aspects of human carnitine deficiency found in the catalog.

Clinical aspects of human carnitine deficiency

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  • 29 Currently reading

Published by Pergamon Press in New York .
Written in English

    Subjects:
  • Carnitine deficiency -- Congresses.,
  • Carnitine -- Metabolism -- Congresses.,
  • Carnitine -- congresses.

  • Edition Notes

    Statementedited by Peggy R. Borum.
    ContributionsBorum, Peggy R.
    Classifications
    LC ClassificationsRC627.C37 C57 1986
    The Physical Object
    Paginationxv, 271 p. :
    Number of Pages271
    ID Numbers
    Open LibraryOL2726715M
    ISBN 100080342205
    LC Control Number86020536

    function in diabetes patients while it is life-saving for patients suffering primary carnitine deficiency. Clinical application of carnitine holds much promise in a range of neural disorders such as Alzheimer's disease, hepatic encephalopathy and other painful by: Carnitine-acylcarnitine translocase (CACT) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting). Signs and symptoms of this disorder usually begin soon after birth and may include breathing problems, seizures, and an irregular heartbeat (arrhythmia).

    In the last 30 years, interest in the metabolism and functions of carnitine has steadily increased. Carnitine is synthesized in most eucaryotic organisms, although a few insects (and most likely some newborn animals) require it as a nutritional factor (vitamin BT). Carnitine biosynthesis is initiated by methylation of by: Carnitine-acylcarnitine translocase (CACT) deficiency is a disease that prevents the body from converting certain fats called long-chain fatty acids into energy, particularly during periods without food (fasting).Carnitine, a natural substance acquired mostly through the diet, is used by cells to process fats and produce energy. People with this disorder have a faulty transporter (CACT) .

    The Linked Data Service provides access to commonly found standards and vocabularies promulgated by the Library of Congress. This includes data values and the controlled vocabularies that house them. Datasets available include LCSH, BIBFRAME, LC Name Authorities, LC Classification, MARC codes, PREMIS vocabularies, ISO language codes, and .   In this study, we will determine if there is a group of children with increased frequency of hypoglycemia and carnitine deficiency. If there is a correlation from the initial children, we will compare two groups of type I diabetic children between the ages of 7 to 21 years.


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Clinical aspects of human carnitine deficiency Download PDF EPUB FB2

Clinical aspects of human carnitine deficiency. New York: Pergamon Press, (OCoLC) Material Type: Conference publication: Document Type: Book: All Authors / Contributors: Peggy R Borum. Primary carnitine deficiency is a genetic condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).

The nature and severity of signs and symptoms may vary, but they most often appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), cardiomyopathy, confusion, vomiting, muscle weakness, and Clinical aspects of human carnitine deficiency book.

Clinical aspects of carnitine–acylcarnitine translocase deficiency The predominantly affected organs are the brain, heart, skeletal muscle, and liver. This explains the observed neurological abnormalities, cardiomyopathy and heart beat disorders, skeletal muscle damage and liver dysfunction in CACT deficient patients (Table 1).Cited by: Abstract.

The biochemical functions of carnitine are reviewed, especially as they apply to metabolic disease states. Although mass spectrometry has played a major role in the biochemical assessment of L-carnitine therapy, those details are considered beyond the scope of this chapter; however, a brief outline is given by: Narvaez Perez GE, Alvarez Casado JJ, Mollerach M et al.

Action of L-carnitine on the submaximal work time and lipid metabolism in trained subjects. In: Borum PR, editor. Clinical aspects of human carnitine deficiency. New York: Cited by: 2. carnitine deficiency presents with a broad clinical spectrum from a metabolic decompensation in infancy to an asymptomatic adult.

The maternal systemic primary carnitine deficiency was uncovered by the newborn screening results supporting the previous notion that newborn screening can identify some of the maternalCited by: Symptoms of carnitine deficiency and the age at which symptoms appear depend on the cause.

Carnitine deficiency may cause muscle necrosis, myoglobinuria, lipid-storage myopathy, hypoglycemia, fatty liver, and hyperammonemia with muscle aches, fatigue, confusion, and cardiomyopathy.

Signs and symptoms of primary carnitine deficiency typically appear during infancy or early childhood and can include severe brain dysfunction (encephalopathy), a weakened and enlarged heart (cardiomyopathy), confusion, vomiting, muscle weakness, and low blood sugar (hypoglycemia).

The severity of this condition varies among affected individuals. The common clinical presentation in CCDS includes mental retardation, expressive speech and language delay, autistic like behaviour and epilepsy.

Treatment of the creatine biosynthesis defects has yielded clinical improvement, while for creatine transporter deficiency, successful treatment strategies still need to be by: Carnitine palmitoyltransferase II (CPT II) deficiency is a condition that prevents the body from using certain fats for energy, particularly during periods without food (fasting).

There are three main types of CPT II deficiency: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form. Carnitine and Acylcarnitines Pharmacokinetic, Pharmacological and Clinical Aspects Article Literature Review in Clinical Pharmacokinetics 51(9) July with 95 Reads.

Author(s): Borum,Peggy R Title(s): Clinical aspects of human carnitine deficiency/ edited by Peggy R. Borum. Country of Publication: United States Publisher: New York:. Abstract. In humans, L-carnitine (L- (-) hydroxytrimethylaminobutyrate, molecular weight 62 daltons) is synthesized in the liver, kidney and brain from the two essential amino acids lysine and methionine mediated by a multi-enzyme system co-factors — vitamin C, niacin, vitamin B 6, and iron — are required by the various enzymes 2, 3.

Cited by: 2. SYSTEMIC CARNITINE DEFICIENCY 1. Fasting hypoglycemia 2. No or limited fasting ketosis 3. Elevated plasma NH 3 4. Hepatic encephalopathy with “flap” and seizures 5.

Multiorgan triglyceride storage 6. Muscle weakness and rhabdomyolysis 7. Progressive cardiomyopathy 8. Carnitine low in plasma and tissues 9.

Gene defect: mutated carnitine. Consequences of carnitine deficiency represent a heterogeneous group of diseases with widely varying clinical symptoms, further complicated by the fact that the carnitine requirement depends on several other factors such as age, diet, metabolic conditions, and tissue dependence on fatty acid oxidation.

8 Because of the different causes of Cited by: 4. Chiariello M, Brevetti G, Policicchio A, Nevola E, Condorelli M. L-Carnitine in acute myocardial infarction.

A multicenter randomized trial. In: Borum PR, editor. Clinical aspects of human carnitine deficiency. New York: Pergamon Press, – Google ScholarCited by: 1. Carnitine-acylcarnitine translocase deficiency: implications in human pathology. ~ observed, comparable to disease, and it remains to ammonemia and the cardiac /3-oxidation defects would (free) carnitine deficiency, needed for the transcription its deficiency is implicated diac hypertrophy [27,28].

Borum (Ed.), Clinical Aspects of Cited by: In book: Vitamins in Animal and Human Nutrition, Second Edition (pp) be a useful tool for the investigation of certain aspects of neonatal carnitine deficiency. clinical crises. Read the latest articles of Molecular Aspects of Medicine atElsevier’s leading platform of peer-reviewed scholarly literature Carnitine acyltransferases and their influence on CoA pools in health and disease.

select article Carnitine–acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects. Primary carnitine deficiency (PCD) can result in a wide of spectrum of clinical manifestations ranging from early episodes with life-threatening to even asymptomatic presentations, including reports of isolated gastrointestinal symptoms and mild developmental delay [38,39].

Angelini C, Vergani L, Martinuzzi A. Clinical and biochemical aspects of carnitine deficiency and insufficiency: transport defects and inborn errors of beta-oxidation.

Crit Rev Clin Lab Sci. 29()L-carnitine at a dose of - mg/(kgd). Clinical evaluation, including physical examination, electrocardiography, chest x-ray, echocardiography and tandem mass spectrometry, was performed before therapy and during follow-up. RESULT: Of 75 cardiomyopathy patients, the diagnosis of carnitine deficiency wasCited by: 3.Carnitine palmitoyltransferase II deficiency is an autosomal recessively inherited genetic metabolic disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria for utilization as an energy source.

The disorder presents in one of three clinical forms: lethal neonatal, severe infantile hepatocardiomuscular and Specialty: Endocrinology.