scholarly journals A case of atypical systemic primary carnitine deficiency in Saudi Arabia

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Abdulrahman Alghamdi ◽  
Hani Almalki ◽  
Aiman Shawli ◽  
Rahaf Waggass ◽  
Fahad Hakami
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Recessive ◽  
Acid Metabolism ◽  
Age Of Onset ◽  
Carnitine Deficiency ◽  
Proximal Muscle ◽  
Skeletal Myopathy ◽  
Primary Carnitine Deficiency ◽  
Elevated Transaminases ◽  
Work Up

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy.

scholarly journals Dilated Cardiomyopathy (DCM) in an Infant Due to Primary Carnitine Deficiency (PCD); A Rare Case

2021 ◽  
pp. 74-77
Author(s):  
Varsha Gajbhiye ◽  
Shubhangi Patil ◽  
Sarika Gaikwad ◽  
Sushma Myadam
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Recessive ◽  
Work Of Breathing ◽  
Carnitine Deficiency ◽  
Acid Oxidation ◽  
Case Presentation ◽  
Life Threatening ◽  
Prolonged Qt Interval ◽  
Primary Carnitine Deficiency ◽  
2D Echocardiogram

Dilated cardiomyopathy (DCM) is known to have ventricular dilatation and dysfunction in  myocardium. Primary carnitine deficiency (PCD) is a not common but a reversible autosomal recessive phenomenon with supplementation of carnitine. Case presentation- 11-month male child was brought with complain of fever, cough, cold since 7 days and increased work of breathing for 15 days.  2 D echo was done suggestive of dilated cardiomyopathy. His initial investigations; chest Xray revealed significant cardiomegaly electrocardiography, (ECG) showed prolonged QT interval fraction. Patient was treated with syrup carnitine syrup empirically, as there is no way to determine a fatty acid oxidation profile. Repeated 2D echocardiogram (2 D ECHO) was suggestive of recovery. Conclusions: Carnitine deficiency could be the cause of  cardiomyopathy and so treatment of carnitine supplementation can be considered empirically to avoid life-threatening complication related to cardiomyopathy.

Primary carnitine deficiency dilated cardiomyopathy: 28years follow-up

2013 ◽  
Vol 162 (2) ◽  
pp. e34-e35 ◽  
Author(s):  
Aldo Agnetti ◽  
Lee Bitton ◽  
Bertrand Tchana ◽  
Akamin Raymond ◽  
Nicola Carano
Keyword(s):  
Dilated Cardiomyopathy ◽  
Carnitine Deficiency ◽  
Primary Carnitine Deficiency

Primary systemic carnitine deficiency: a Turkish case with a novel homozygous SLC22A5 mutation and 14 years follow-up

2015 ◽  
Vol 28 (9-10) ◽  
Author(s):  
Berna Seker Yilmaz ◽  
Deniz Kor ◽  
Neslihan Onenli Mungan ◽  
Sevcan Erdem ◽  
Serdar Ceylaner
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Carnitine Deficiency ◽  
Carnitine Transporter ◽  
Hypoglycemic Encephalopathy ◽  
Primary Carnitine Deficiency ◽  
Turkish Case ◽  
Systemic Carnitine Deficiency

AbstractSystemic primary carnitine deficiency is an autosomal recessive disorder caused by the deficiency of carnitine transporter. Main features are cardiomyopathy, myopathy and hypoglycemic encephalopathy. We report a Turkish case with a novel

scholarly journals Combined primary carnitine deficiency with neonatal intrahepatic cholestasis caused by citrin deficiency in a Chinese newborn

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Yiming Lin ◽  
Weihua Lin ◽  
Yanru Chen ◽  
Chunmei Lin ◽  
Zhenzhu Zheng ◽  
...  
Keyword(s):  
Intrahepatic Cholestasis ◽  
Autosomal Recessive ◽  
Metabolic Diseases ◽  
Autosomal Recessive Disorder ◽  
Carnitine Deficiency ◽  
Acid Oxidation ◽  
Dual Disorders ◽  
Expanded Newborn Screening ◽  
Primary Carnitine Deficiency ◽  
Citrin Deficiency

Abstract Background Primary carnitine deficiency (PCD) is an autosomal recessive disorder affecting the carnitine cycle and resulting in defective fatty acid oxidation. Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder and one of the main causes of inherited neonatal cholestasis. Both PCD and NICCD are included in the current expanded newborn screening (NBS) targets. Case presentation Targeted exome sequencing was performed on a Chinese proband, and Sanger sequencing was utilised to validate the detected mutations. The patient who was initially suspected to have PCD based on the NBS results presented with neonatal intrahepatic cholestasis and ventricular septal defect. Further investigations not only confirmed PCD but also revealed the presence of NICCD. Four distinct mutations were detected, including c.51C > G (p.F17L) and c.760C > T (p.R254X) in SLC22A5 as well as c.615 + 5G > A and IVS16ins3kb in SLC25A13. Conclusions This is the first reported case of PCD and NICCD occurring in the same patient. The dual disorders in a newborn broaden our understanding of inherited metabolic diseases. Thus, this study highlighted the importance of further genetic testing in patients presenting with unusual metabolic screening findings.

Dilated Cardiomyopathy With Short QT Interval Suggests Primary Carnitine Deficiency

2018 ◽  
Vol 71 (12) ◽  
pp. 1074-1075 ◽  
Author(s):  
Francesca Perin ◽  
María del Mar Rodríguez-Vázquez del Rey ◽  
Carmen Carreras-Blesa ◽  
Luisa Arrabal-Fernández ◽  
Juan Jiménez-Jáimez ◽  
...  
Keyword(s):  
Dilated Cardiomyopathy ◽  
Qt Interval ◽  
Carnitine Deficiency ◽  
Primary Carnitine Deficiency

Dilated Cardiomyopathy in Standard Schnauzers: Retrospective Study of 15 Cases

2017 ◽  
Vol 53 (1) ◽  
pp. 38-44 ◽  
Author(s):  
Mark W. Harmon ◽  
Stacey B. Leach ◽  
Kenneth E. Lamb
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Medical Records ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Pedigree Analysis ◽  
Common Ancestry ◽  
Autosomal Recessive Mode ◽  
Familial Predisposition ◽  
Mode Of Inheritance

ABSTRACT Dilated cardiomyopathy (DCM) is the most common myocardial disorder of dogs, typically affecting large and giant breeds. The purpose of this study was to describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days). The occurrence of early onset DCM in multiple closely related standard schnauzers suggests a familial predisposition in this breed. Pedigree analysis confirmed common ancestry for all DCM affected dogs with a most likely autosomal recessive mode of inheritance.

scholarly journals Familial dilated cardiomyopathy with RBM20 mutation in an Indian patient: a case report

2021 ◽  
Vol 73 (1) ◽  
Author(s):  
Soumi Das ◽  
Sandeep Seth
Keyword(s):  
Ejection Fraction ◽  
Dilated Cardiomyopathy ◽  
Age Of Onset ◽  
Arrhythmogenic Right Ventricular Cardiomyopathy ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Early Age ◽  
Indian Patient ◽  
Ventricular Ejection Fraction ◽  
First Case

Abstract Background Dilated cardiomyopathy (DCM) is a disease of the heart muscle characterized by ventricular dilation and a left ventricular ejection fraction of less than 40%. Unlike hypertrophic cardiomyopathy (HCM) and arrhythmogenic right ventricular cardiomyopathy (ARVC), DCM-causing mutations are present in a large number of genes. In the present study, we report a case of the early age of onset of DCM associated with a pathogenic variant in the RBM20 gene in a patient from India. Case presentation A 19-year-old Indian male diagnosed with DCM was suggested for heart transplantation. His ECG showed LBBB and echocardiography showed an ejection fraction of 14%. He had a sudden cardiac death. A detailed family history revealed it to be a case of familial DCM. Genetic screening identified the c.1900C>T variant in the RBM20 gene which led to a missense variant of amino acid 634 (p.Arg634Trp). Conclusion To the best of our knowledge, the variant p.Arg634Trp has been earlier reported in the Western population, but this is the first case of p.Arg634Trp in an Indian patient. The variant has been reported to be pathogenic at an early age of onset; therefore, close clinical follow-up should be done for the family members caring for the variant.

scholarly journals Ataxia with oculomotor apraxia type 2: an evolving axonal neuropathy

2017 ◽  
Vol 18 (1) ◽  
pp. 52-56
Author(s):  
Tahira N Choudry ◽  
David Hilton-Jones ◽  
Graham Lennox ◽  
Henry Houlden
Keyword(s):  
Autosomal Recessive ◽  
Age Of Onset ◽  
Axonal Neuropathy ◽  
Elevated Serum ◽  
Cerebellar Atrophy ◽  
Recessive Ataxia ◽  
Autosomal Recessive Ataxia ◽  
Oculomotor Apraxia ◽  
Ataxia With Oculomotor Apraxia

A 23-year-old woman had presented initially to a podiatrist complaining of poorly fitting shoes during her adolescence. After extensive neurological review, she was diagnosed with ataxia with oculomotor apraxia type 2. This is a progressive autosomal recessive ataxia associated with cerebellar atrophy, peripheral neuropathy and an elevated serum α-fetoprotein. Within Europe, it is the most frequent autosomal recessive ataxia after Friedreich’s ataxia and is due to mutations in the senataxin (SETX) gene. The age of onset is approximately 15 years.The diagnosis of oculomotor apraxia type 2 is often challenging. We provide a framework for assessing a young ataxic patient with or without oculomotor apraxia and review clues that will aid diagnosis. The prognosis, level of disability, cancer and immunosuppression risk all markedly differ between the conditions. Patients and their families need the correct diagnosis for genetic counselling, management and long-term surveillance with appropriate subspecialty services.

Endocardial fibroelastosis and primary carnitine deficiency due to a defect in the plasma membrane carnitine transporter

1996 ◽  
Vol 19 (3) ◽  
pp. 243-246 ◽  
Author(s):  
Michael J. Bennett ◽  
Daniel E. Hale ◽  
Rodney J. Pollitt ◽  
Sadick Variend ◽  
Charles A. Stanley
Keyword(s):  
Plasma Membrane ◽  
Carnitine Deficiency ◽  
Endocardial Fibroelastosis ◽  
Carnitine Transporter ◽  
Primary Carnitine Deficiency

scholarly journals Carnitine Uptake Defect (Primary Carnitine Deficiency): Risk in Genotype-Phenotype Correlation

2013 ◽  
Vol 34 (4) ◽  
pp. 655-655 ◽  
Author(s):  
Yi-Chen Chen ◽  
Yin-Hsiu Chien ◽  
Pin-Wen Chen ◽  
Nelson Leung-Sang Tang ◽  
Pao-Chin Chiu ◽  
...  
Keyword(s):  
Carnitine Deficiency ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Primary Carnitine Deficiency ◽  
Carnitine Uptake
Sign in / Sign up

Export Citation Format

Share Document