Carnitine deficiency disorders in children

CA Stanley - Annals of the New York Academy of Sciences, 2004 - Wiley Online Library
… benefit from carnitinecarnitine deficiency diseases: carnitine deficiency due to a recessive
genetic defect of the plasma membrane carnitine transporter, OCTN2; and acquired carnitine

Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management

PL Magoulas, AW El-Hattab - Orphanet journal of rare diseases, 2012 - Springer
Carnitine levels in unaffected newborns should normalize … carnitine deficiency, a repeat
plasma carnitine analysis should be performed. If the carnitine levels normalize without carnitine

[PDF][PDF] Secondary carnitine deficiency

C Susan, MD Winter - 1990 - dbarchive.biosciencedbc.jp
… , carnitine deficiency can occur as a secondary complication in many clinical disorders.
Recognition of the signs and symptoms of carnitine deficiency should … carnitine therapy. Once the …

Primary and secondary carnitine deficiency syndromes

R Pons, DC De Vivo - Journal of Child Neurology, 1995 - journals.sagepub.com
… The objective of this article is to review primary and secondary causes of carnitine deficiency
the cytosolic carnitine cycle and the mitochondrial β-oxidation cycle. Carnitine is central to …

Carnitine metabolism and human carnitine deficiency.

V Tanphaichitr, P Leelahagul - Nutrition (Burbank, Los Angeles …, 1993 - europepmc.org
… Hereditary carnitine deficiency can be grouped into three clinical entities: … carnitine deficiency,
systemic carnitine deficiency, and organic acidurias. Acquired carnitine deficiency is due …

Carnitine deficiency

EF Gilbert - Pathology, 1985 - Elsevier
Carnitine is an essential cofactor in the transfer of long-chain fatty acids across the inner
mitochondrial membrane. Carnitine … the liver, brain and kidney to form carnitine which in turn is …

Treatment of carnitine deficiency

SC Winter - Journal of inherited metabolic disease, 2003 - Springer
Carnitine deficiency is a secondary complication of many inborn errors of metabolism.
Pharmacological treatment with carnitine not only corrects the deficiency… the use of carnitine for the …

Carnitine deficiency syndromes

GN Breningstall - Pediatric neurology, 1990 - Elsevier
… Addition of carnitine to the homogenates corrected the defect. Direct assay of skeletal muscle
carnitine documented carnitine deficiency [7]. Serum and liver carnitine levels were normal…

The syndrome of systemic carnitine deficiency: clinical, morphologic, biochemical, and pathophysiologic features

G Karpati, S Carpenter, AG Engel, G Watters, J Allen… - Neurology, 1975 - AAN Enterprises
… It is possible that the cause of carnitine deficiency in different patients … If carnitine deficiency
was present since birth in these patients, we have to assume either that exogenous carnitine

Development and characterization of an animal model of carnitine deficiency

M Spaniol, H Brooks, L Auer… - European Journal of …, 2001 - Wiley Online Library
… in plasma and tissue carnitine levels but not to symptoms of carnitine deficiency [23], we
decided to provide a carnitine-deficient diet and to inhibit carnitine biosynthesis by blocking …