Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency

2015 ◽  
Vol 94 (1) ◽  
pp. 147-150 ◽  
Author(s):  
TOSHIAKI HITOMI ◽  
NORIO MATSUURA ◽  
YOSUKE SHIGEMATSU ◽  
YOSHIYUKI OKANO ◽  
ERI SHINOZAKI ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Carnitine Deficiency ◽  
Accurate Diagnosis ◽  
Systemic Carnitine Deficiency

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

scholarly journals New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases

2020 ◽  
Vol 21 (1) ◽  
pp. 351-372 ◽  
Author(s):  
Taila Hartley ◽  
Gabrielle Lemire ◽  
Kristin D. Kernohan ◽  
Heather E. Howley ◽  
David R. Adams ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Genetic Disease ◽  
New Technologies ◽  
Genetic Diseases ◽  
Well Being ◽  
Accurate Diagnosis ◽  
Diagnostic Odyssey ◽  
Rare Genetic Disease ◽  
Rare Genetic Diseases ◽  
Diagnostic Approaches

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and promoting patient and family well-being. However, families with a rare genetic disease (RGD) often spend more than five years on a diagnostic odyssey of specialist visits and invasive testing that is lengthy, costly, and often futile, as 50% of patients do not receive a molecular diagnosis. The current diagnostic paradigm is not well designed for RGDs, especially for patients who remain undiagnosed after the initial set of investigations, and thus requires an expansion of approaches in the clinic. Leveraging opportunities to participate in research programs that utilize new technologies to understand RGDs is an important path forward for patients seeking a diagnosis. Given recent advancements in such technologies and international initiatives, the prospect of identifying a molecular diagnosis for all patients with RGDs has never been so attainable, but achieving this goal will require global cooperation at an unprecedented scale.

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
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