Organization of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

2002 ◽  
Vol 111 (2) ◽  
pp. 179-189 ◽  
Author(s):  
Stéphanie Gobin ◽  
Jean-Paul Bonnefont ◽  
Carina Prip-Buus ◽  
Claude Mugnier ◽  
Magali Ferrec ◽  
...  
Keyword(s):  
Human Liver ◽  
Carnitine Palmitoyltransferase ◽  
Novel Mutations ◽  
Hypoketotic Hypoglycaemia ◽  
Carnitine Palmitoyltransferase 1

scholarly journals Rat Liver Carnitine Palmitoyltransferase 1 Forms an Oligomeric Complex within the Outer Mitochondrial Membrane

2007 ◽  
Vol 282 (37) ◽  
pp. 26908-26916 ◽  
Author(s):  
Audrey Faye ◽  
Catherine Esnous ◽  
Nigel T. Price ◽  
Marie Anne Onfray ◽  
Jean Girard ◽  
...  
Keyword(s):  
Rat Liver ◽  
Mitochondrial Membrane ◽  
Carnitine Palmitoyltransferase ◽  
Outer Mitochondrial Membrane ◽  
Oligomeric Complex ◽  
Carnitine Palmitoyltransferase 1

Organization of the liver-type human carnitine palmitoyltransferase 1 (CPT1A) gene

2001 ◽  
Vol 29 (1) ◽  
pp. A25-A25
Author(s):  
S. Gobin ◽  
J. P. Bonnefont ◽  
C. Prip-Buus ◽  
C. Mugnier ◽  
F. Demaugre ◽  
...  
Keyword(s):  
Carnitine Palmitoyltransferase ◽  
Carnitine Palmitoyltransferase 1

scholarly journals Carnitine Palmitoyl Tranferase Type 1 Deficiency in Fatty acid oxidation disorder: A Case report

2017 ◽  
Vol 6 (1) ◽  
pp. 38-40 ◽  
Author(s):  
Nurun Naher ◽  
Laila Nurun Nahar ◽  
Sabina Sultana ◽  
Abdul Matin ◽  
Md Hasan Jamal Fakir ◽  
...  
Keyword(s):  
Fatty Acid ◽  
Panel Study ◽  
Acid Oxidation ◽  
Long Chain Fatty Acid ◽  
Hypoketotic Hypoglycaemia ◽  
Liver Transaminases ◽  
Frequent Feeding ◽  
Carnitine Palmitoyltransferase 1 ◽  
Treatment Of Infection

Carnitine palmitoyltransferase 1(CPT-1) catalyzes the formation of acylcarnitine, which is the first step in the oxidation of long chain fatty acid in the mitochondria. CPT-1 deficiency is an inborn error of metabolism. Reported patient with CPT -1 deficiency was a 16 months old boy present with hypoketotic hypoglycaemia, hepatomegaly with raised liver transaminases, hyperamminaemia, convulsion and unconsciousness. Diagnosis was established by IMD panel study. Treatment was done by correction of hypoglycemia, avoidance of hypoglycemia by ensuring frequent feeding, avoidance of prolonged fasting, treatment of infection & other supportive measures.J Shaheed Suhrawardy Med Coll, June 2014, Vol.6(1); 38-40

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