scholarly journals 1143 METABOLIC EFFECTS OF TREATMENT OF SYSTEMIC CARNITINE DEFICIENCY

1981 ◽  
Vol 15 ◽  
pp. 633-633 ◽  
Author(s):  
Douglas Kerr ◽  
Susan Shurin ◽  
Kou-Yi Tserng ◽  
Charles Hoppel
Keyword(s):  
Carnitine Deficiency ◽  
Metabolic Effects ◽  
Systemic Carnitine Deficiency

scholarly journals 1129 SYSTEMIC CARNITINE DEFICIENCY: A CAUSE OF RECURRENT “REYE'S SYNDROME.”

1978 ◽  
Vol 12 ◽  
pp. 552-552
Author(s):  
Allen M Glasgow ◽  
Gloria Eng ◽  
Andrew G Engle ◽  
Wellington Hung
Keyword(s):  
Carnitine Deficiency ◽  
Reye's Syndrome ◽  
Systemic Carnitine Deficiency

Carnitine insufficiency in children with inborn errors of metabolism: prevalence and treatment efficacy

2015 ◽  
Vol 28 (11-12) ◽  
Author(s):  
Ilgar Mamedov ◽  
Irina Zolkina ◽  
Ekaterina Nikolaeva ◽  
Pavel Glagovsky ◽  
Vladimir Sukhorukov
Keyword(s):  
Fatty Acids ◽  
Plasma Level ◽  
Psychomotor Retardation ◽  
Carnitine Deficiency ◽  
Free Carnitine ◽  
Hereditary Diseases ◽  
Inborn Errors ◽  
Carnitine Level ◽  
Subsequent Investigation ◽  
Systemic Carnitine Deficiency

AbstractCarnitine is necessary for the transfer of long-chain fatty acids from the cytosol into mitochondria for subsequent β-oxidation. A carnitine deficiency results in impaired energy production from fatty acids.We reviewed the plasma level of total carnitine, free carnitine, and acylcarnitines in 1270 children with psychomotor retardation, low growth, and weight parameters. Tandem mass spectrometry (MS/MS) was applied. Low free carnitine level in plasma was used as a marker of carnitine deficiency.A total of 102 (8%) children had free carnitine level <19 μmol/L (norm 19–60 μmol/L). As a result of the subsequent investigation, hereditary diseases were diagnosed in 76 (¾) children and out of that 19 had very low free carnitine plasma level (<10 μmol/L). Fanconi syndrome, fat oxidation defects, primary systemic carnitine deficiency, mitochondrial encephalomyopathy, and Noonan syndrome were revealed in these 19 children.Efficacy of levocarnitine treatment in children with very low free carnitine level differs according to pathogenesis of diseases. The highest efficacy was observed in primary systemic carnitine deficiency.

scholarly journals Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency

2010 ◽  
Vol 31 (8) ◽  
pp. E1632-E1651 ◽  
Author(s):  
Fang-Yuan Li ◽  
Ayman W. El-Hattab ◽  
Erawati V. Bawle ◽  
Richard G. Boles ◽  
Eric S. Schmitt ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Carnitine Deficiency ◽  
Molecular Spectrum ◽  
Systemic Carnitine Deficiency

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency

2002 ◽  
Vol 25 (5) ◽  
pp. 363-369 ◽  
Author(s):  
Z. Rahbeeni ◽  
F. M. Vaz ◽  
K. Al-Hussein ◽  
M. P. Bucknall ◽  
J. Ruiter ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Novel Mutations ◽  
Systemic Carnitine Deficiency ◽  
Saudi Patients
Sign in / Sign up

Export Citation Format

Share Document