Results 231 to 240 of about 33,228 (280)

Primary carnitine deficiency in the Chinese.

Chinese medical journal, 2002
N L, Tang, J, Hui, L K, Law, K F, To, K L, Cheung, H N, Magnus, P M, Yuen, T F, Fok   +7 more
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Case Report: Lethal neonatal form of CPT II deficiency in consecutive pregnancies: fetal-neonatal characteristics, biochemical and molecular review. [PDF]

Front Pediatr
Tan YY, Tewani KG, Anand AJ, Kong CX, Rajadurai VS, Chandran S.   +5 more
europepmc   +1 more source

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Primary systemic carnitine deficiency

Neurology, 1981
[Methyl-3H]epsilon-N-trimethyl-L-lysine was administered to patients with primary systemic carnitine deficiency and to controls. In both groups, labeled carnitine appeared in blood and urine within 2 hours, and the specific radioactivity of urinary carnitine peaked between 2 and 6 hours.
C J, Rebouche, A G, Engel
openaire   +2 more sources

Primary carnitine deficiency

Neurology, 1991
Two boys from different families had primary carnitine deficiency: one had cardiomyopathy and myopathy, and the other had hypoglycemia and myopathy but no cardiomyopathy. Uptake of carnitine by cultured fibroblasts was negligible in both patients. Vmax for carnitine transport was reduced to 50% of controls' value in the parents and one brother (who had
B, Garavaglia, G, Uziel, F, Dworzak, F, Carrara, S, DiDonato   +4 more
openaire   +2 more sources

Ventricular Fibrillation Caused by Primary Carnitine Deficiency

The Journal of Emergency Medicine, 2020
Primary carnitine deficiency (PCD) is a rare but potentially life-threatening genetic disorder if left untreated. Although some patients remain asymptomatic lifelong, a few patients present with hepatic encephalopathy, hypoglycemia, cardiomyopathy, dysrhythmia, and even sudden death.A 25-year-old woman with PCD collapsed suddenly while eating lunch ...
Chun-Chi, Lu, Chia-Wen, Chang, Yen-Hung, Wu, Jhong-Chin, Lin   +3 more
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Primary and Secondary Carnitine Deficiency Syndromes

Journal of Child Neurology, 1995
The objective of this article is to review primary and secondary causes of carnitine deficiency, emphasizing recent advances in our knowledge of fatty acid oxidation. It is now understood that the cellular metabolism of fatty acids requires the cytosolic carnitine cycle and the mitochondrial β-oxidation cycle. Carnitine is central to the translocation
R, Pons, D C, De Vivo
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Pharmacological rescue of carnitine transport in primary carnitine deficiency

Human Mutation, 2006
Primary carnitine deficiency is a recessive disorder caused by heterogeneous mutations in the SLC22A5 gene encoding the OCTN2 carnitine transporter. Here we extend mutational analysis to eight new families with this disorder. To determine the mechanism by which missense mutations impaired carnitine transport, the OCTN2 transporter was tagged with the ...
Cristina, Amat di San Filippo, Marzia, Pasquali, Nicola, Longo   +2 more
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Pericardial effusion in primary systemic carnitine deficiency

Journal of Inherited Metabolic Disease, 2006
SummaryA patient with pericardial effusion and a complicated presentation of primary systemic carnitine deficiency (PSCD) is described. This is the first case of PSCD reported to have pericardial effusion. Compound heterozygosity for two mutations in the SLC22A5 gene, T440M and F23del, and four SLC22A5 polymorphisms (c.IVS3+6A>G, c.−77G>A, c.−78C&
Duangrurdee, Wattanasirichaigoon, Pongsak, Khowsathit, Anannit, Visudtibhan, Umaporn, Suthutvoravut, Dussadee, Charoenpipop, Sook Z, Kim, Harvey L, Levy, Vivian E, Shih   +7 more
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Primary carnitine deficiency.

Journal of clinical chemistry and clinical biochemistry. Zeitschrift fur klinische Chemie und klinische Biochemie, 1990
Carnitine deficiency can be defined as a decrease of intracellular carnitine, leading to an accumulation of acyl-CoA esters and an inhibition of acyl-transport via the mitochondrial inner membrane. This may cause disease by the following processes. A.
H R, Scholte, R, Rodrigues Pereira, P C, de Jonge, I E, Luyt-Houwen, M, Hedwig, M, Verduin, J D, Ross   +6 more
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Functional Characterization of the Carnitine Transporter Defective in Primary Carnitine Deficiency

Archives of Biochemistry and Biophysics, 1999
Primary carnitine deficiency is an autosomal recessive disorder caused by defective carnitine transport which impairs fatty acid oxidation and manifests as nonketotic hypoglycemia or skeletal or heart myopathy. Here we report the functional characterization of this transporter in human fibroblasts.
F, Scaglia, Y, Wang, N, Longo
openaire   +2 more sources