Carnitine palmitoyl transferase 1A deficiency

Also Known As:

CPT 1A Deficiency; CPT Deficiency, Hepatic, Type I; CPT I Deficiency; Carnitine Palmitoyltransferase I Deficiency; Carnitine Palmitoyltransferase IA Deficiency; Carnitine palmitoyltransferase 1 deficiency; Hepatic carnitine palmitoyltransferase 1 deficiency; Liver Form of Carnitine Palmitoyltransferase Deficiency

Networked: 19 relevant articles (0 outcomes, 1 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Olpin, S E: 3 articles (01/2013 - 02/2001)
2.	Hata, Ikue: 2 articles (01/2019 - 07/2003)
3.	Shigematsu, Yosuke: 2 articles (01/2019 - 07/2003)
4.	Bennett, M J: 2 articles (01/2013 - 07/2001)
5.	Morris, A A M: 2 articles (01/2013 - 02/2007)
6.	Belanger-Quintana, Amaya: 1 article (03/2022)
7.	Bellusci, Marcello: 1 article (03/2022)
8.	Bergua Martínez, Ana: 1 article (03/2022)
9.	Cambra Conejero, Ana: 1 article (03/2022)
10.	Cañedo Villaroya, Elvira: 1 article (03/2022)

Related Diseases

1.	Pain (Aches) 07/01/2001 - "In the present study we have identified and characterized the mutations underlying L-CPT I deficiency in six patients: five with classic symptoms of L-CPT I deficiency and one with symptoms that have not previously been associated with this disorder (muscle cramps and pain). "
2.	Muscle Cramp (Cramp) 07/01/2001 - "In the present study we have identified and characterized the mutations underlying L-CPT I deficiency in six patients: five with classic symptoms of L-CPT I deficiency and one with symptoms that have not previously been associated with this disorder (muscle cramps and pain). "
3.	VLCAD deficiency 07/15/2003 - "In a selective screening for fatty acid oxidation disorders by tandem mass spectrometry, we tested the diagnostic ratios and acylcarnitine concentrations in sera or blood spots, which were reported to be specific to very long-chain acyl CoA dehydrogenase deficiency, carnitine palmitoyltransferase I deficiency, and carnitine palmitoyltransferase II deficiency. " 01/01/2013 - "The disorders included carnitine palmitoyltransferase I deficiency, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase II deficiency, very long-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short-chain defects, and carnitine uptake defect. " 01/01/2019 - "We have developed a novel method to evaluate the metabolic defects in peripheral blood mononuclear cells loaded with deuterium-labeled fatty acids directly using the ratios of acylcarnitines determined by flow injection MS/MS. We have identified diagnostic indices for the disorders as follows: decreased ratios of d27-C14-acylcarnitine/d31-C16-acylcarnitine and d23-C12-acylcarnitine/d31-C16-acylcarnitine for carnitine palmitoyltransferase-II (CPT-II) deficiency, decreased ratios of d23-C12-acylcarnitine/d27-C14-acylcarnitine for very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency, and increased ratios of d29-C16-OH-acylcarnitine/d31-C16-acylcarnitine for trifunctional protein (TFP) deficiency, together with increased ratios of d7-C4-acylcarnitine/d31-C16-acylcarnitine for carnitine palmitoyltransferase-I deficiency. " 03/01/2022 - "An IEM was confirmed in 222 (1/2670): aminoacidopathies: 89 hyperphenylalaninemia (HPA) (51 benign HPA, 32 phenylketonuria, 4 DNAJC12 defect, and 2 primapterinuria), 6 hypermethioninemia, 3 tyrosinemia type 1 (TYR-1), 1 TYR-3, 4 maple syrup urine disease (MSUD), 2 branched-chain amino acid transferase 2 deficiency, 2 homocystinuria, 1 cystinuria, 2 ornithine transcarbamylase (OTC) deficiency, 2 citrullinemia type I (CTLN1); FAO defects: 43 medium-chain acyl-CoA dehydrogenase deficiency (MCADD), 13 very long-chain acyl-CoA dehydrogenase deficiency, 2 long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), 1 multiple acyl-coA dehydrogenation deficiency, 11 systemic primary carnitine deficiency, 2 carnitine palmitoyltransferase type 2 (CPT-II) deficiency, 1 CPT-I deficiency; organic acidurias: 12 glutaric aciduria type 1 (GA-1), 4 methylmalonic acidemia (MMA), 7 MMA including combined cases with homocystinuria (MMAHC), 6 propionic acidemia (PA), 7 3-methylcrotonyl-CoA carboxylase, 1 3-hydroxy-3-methylglutaryl-CoA lyase deficiency lyase deficiency. "
4.	Multiple Acyl Coenzyme A Dehydrogenase Deficiency 01/01/2023 - "Among 29,948 neonates screened by tandem mass spectrometry, 14 cases of primary carnitine deficiency, six cases of short-chain acyl coenzyme A dehydrogenase deficiency, two cases of carnitine palmitoyltransferase-I deficiency and one case of multiple acyl coenzyme A dehydrogenase deficiency were recalled. " 08/01/1997 - "The in vivo oxidation of fatty acids (FA) of different chain length was investigated in three patients with documented mitochondrial FA oxidation disorders: one patient with mild multiple acyl-CoA dehydrogenase deficiency (MADM), one with medium chain acyl-CoA dehydrogenase deficiency (MCAD), and one with carnitine palmitoyltransferase I deficiency (CPT I). " 01/01/2013 - "The disorders included carnitine palmitoyltransferase I deficiency, carnitine acylcarnitine translocase deficiency, carnitine palmitoyltransferase II deficiency, very long-chain acyl-CoA dehydrogenase deficiency, medium-chain acyl-CoA dehydrogenase deficiency, multiple acyl-CoA dehydrogenase deficiency, short-chain defects, and carnitine uptake defect. "
5.	Coma (Comas) 03/01/2001 - "Postoperative coma in a child with carnitine palmitoyltransferase I deficiency." 10/24/2006 - "Lipids detected by brain MRS during coma caused by carnitine palmitoyltransferase 1 deficiency." 02/01/2001 - "Reported patients with CPT I deficiency lack activity of the hepatic isoform and present before 30 months of age with hypoketotic hypoglycaemia, hepatomegaly with raised transaminases, seizures and coma. "

Related Drugs and Biologics

1.	Carnitine palmitoyl transferase 2 deficiency
2.	Fatty Acids (Saturated Fatty Acids)
3.	Carnitine O-Palmitoyltransferase (Carnitine Palmitoyltransferase II)
4.	Systemic carnitine deficiency
5.	Transferases
6.	Carnitine (L-Carnitine)
7.	acylcarnitine
8.	Long-Chain Acyl-CoA Dehydrogenase (Long-Chain-Acyl-Coenzyme A Dehydrogenase)
9.	Protein Isoforms (Isoforms)
10.	Glycyrrhizic Acid (Glycyrrhizin)

Related Therapies and Procedures

1.	Liver Transplantation