Systemic carnitine deficiency

A heriditary autosomal recessive disorder caused by mutations in the high-affinity carnitine transporter (SLC22A5 gene) that is expressed in muscle, heart, kidney, LYMPHOBLASTS, and FIBROBLASTS. This results in impaired fatty acid oxidation in skeletal and heart muscle. Renal wasting of carnitine results in low serum levels and diminished hepatic uptake of carnitine . It can be treated by supplementation of carnitine in early stages, but will result in lethal heart failure if untreated. OMIM: 212140

Also Known As:

Networked: 211 relevant articles (4 outcomes, 7 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Matsui, Hideo: 5 articles (09/2007 - 01/2003)
2.	Okumura, Kenji: 5 articles (09/2007 - 01/2003)
3.	Takahashi, Ryotaro: 5 articles (09/2007 - 01/2003)
4.	Rasmussen, Jan: 4 articles (01/2020 - 01/2013)
5.	Horiuchi, Masahisa: 4 articles (01/2016 - 12/2002)
6.	Longo, Nicola: 4 articles (01/2012 - 11/2003)
7.	Asai, Toru: 4 articles (09/2007 - 06/2003)
8.	Murohara, Toyoaki: 4 articles (09/2007 - 06/2003)
9.	Huang, Xinwen: 3 articles (01/2022 - 02/2012)
10.	Yang, Rulai: 3 articles (01/2022 - 02/2012)

Related Diseases

1.	Cardiomyopathies (Cardiomyopathy) 06/01/2008 - "This study tested whether heterozygosity for primary carnitine deficiency was associated with cardiomyopathy. " 11/14/2023 - "Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism." 01/01/2018 - "Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy." 07/01/2014 - "To investigate the mutation and background of SLC22A5 in 6 patients with primary carnitine deficiency (PCD) who only presented as cardiomyopathy. " 07/01/2014 - "[Genetics and pedigree analysis of primary carnitine deficiency cardiomyopathy in 6 cases]."
2.	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 06/01/1987 - "Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency." 10/01/2010 - "Free carnitine is measured to monitor carnitine supplementation in patients with multiple acyl-coenzyme A dehydrogenase deficiency (MADD) and carnitine transporter deficiency (CTD) and to follow metabolic control and disclose deficiency states in other FAO disorders. " 02/01/2011 - "Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. " 01/01/2021 - "The most studied metabolic myopathies were Pompe disease (45 articles), multiple acyl-CoA dehydrogenase deficiency related to mutations in the ETFDH gene (15 articles) and systemic primary carnitine deficiency (8 articles). " 10/01/2010 - "So far, causative genes have been identified in four different LSMs, comprising primary carnitine deficiency, multiple acyl-CoA dehydrogenase deficiency or glutaric aciduria type II, neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. "
3.	Cardiomegaly (Heart Hypertrophy) 11/01/1999 - "An echocardiographic study of the families of patients with primary carnitine deficiency revealed that the heterozygotes for OCTN2 mutations were predisposed to late onset benign cardiac hypertrophy (odds ratio 15.1, 95% CI 1.39-164) compared with the wild-types. " 12/01/2002 - "Human systemic carnitine deficiency (SCD) is a hereditary disease caused by the mutation of OCTN2 and has the characteristics of cardiac hypertrophy. " 04/01/1998 - "The juvenile visceral steatosis (JVS) mouse exhibits hereditary systemic carnitine deficiency and develops cardiac hypertrophy. " 04/01/1998 - "Characteristics of cardiac hypertrophy in the juvenile visceral steatosis mouse with systemic carnitine deficiency." 07/12/1993 - "Cardiac hypertrophy in juvenile visceral steatosis (jvs) mice with systemic carnitine deficiency."
4.	Glycogen Storage Disease Type V (McArdle's Disease) 09/21/2017 - "Supplements of riboflavin, carnitine, and sucrose show promise in patients with respectively riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, primary carnitine deficiency, and McArdle disease. "
5.	Chanarin-Dorfman Syndrome 02/01/2011 - "Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. " 10/01/2010 - "So far, causative genes have been identified in four different LSMs, comprising primary carnitine deficiency, multiple acyl-CoA dehydrogenase deficiency or glutaric aciduria type II, neutral lipid storage disease with ichthyosis, and neutral lipid storage disease with myopathy. " 12/01/2010 - "Genetic studies were performed to detect mutations in the SLC22A5 for primary carnitine deficiency, PNPLA2 for neutral lipid storage disease with myopathy, ABHD5 for neutral lipid storage disease with ichthyosis, ETFDH for multiple acyl-CoA dehydrogenation deficiency (MADD), and CPT2 for carnitine palmitoyltransferase II deficiency. " 03/01/2009 - "Causative genes have been identified only in four types of lipid storage myopathies (LSMs): SLC22A5 for primary carnitine deficiency (PCD); ETFA, ETFB, and ETFDH for multiple acyl-coenzyme A dehydrogenation deficiency (MADD); PNPLA2 for neutral lipid storage disease with myopathy (NLSDM); and ABHD5 for neutral lipid storage disease with ichthyosis. " 01/01/2016 - "We investigated the factors that regulate lipophagy in muscle biopsies from 6 patients with different types of LSM: 2 cases of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD), 1 case of primary carnitine deficiency (CD), 2 cases of neutral lipid storage myopathy (NLSD-M), 1 case of carnitine-palmitoyl-transferase-II (CPT) deficiency. "

Related Drugs and Biologics

1.	Carnitine (L-Carnitine)
2.	Riboflavin (Vitamin B2)
3.	Sucrose (Saccharose)
4.	Acyl Coenzyme A (Acyl CoA)
5.	Carnitine palmitoyl transferase 2 deficiency
6.	Fatty Acids (Saturated Fatty Acids)
7.	Lipids
8.	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)
9.	calcium dependent sulfhydryl protease
10.	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)

Related Therapies and Procedures

1.	Therapeutics
2.	Oral Administration