Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

Morris, Andrew A. M.; Olpin, S. E.; Bennett, Michael J.; Santani, Avni; Stahlschmidt, Jens; McClean, Patricia

doi:10.1007/8904_2012_135

Cited by 6 publications

(6 citation statements)

References 9 publications

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“…Patients with CPT1 deficiency usually present in infancy with recurrent episodes of hypoketotic hypoglycaemic, metabolic acidosis with raised transaminases, hepatomegaly, hepatosteatosis and mild to moderate hyperammonemia. Cholestatic jaundice has recently been described (Morris et al 2013). Acute fatty liver of pregnancy AFLP has also been reported in an Inuit female (Innes et al 2000).…”

Section: Carnitine Palmitoyltransferase Type 1 Deficiency (Cpt1a)mentioning

confidence: 89%

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

Olpin

2013

J of Inher Metab Disea

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Fatty acids are a major fuel for the body and fatty acid oxidation is particularly important during fasting, sustained aerobic exercise and stress. The myocardium and resting skeletal muscle utilise long-chain fatty acids as a major source of energy. Inherited disorders affecting fatty acid oxidation seriously compromise the function of muscle and other highly energy-dependent tissues such as brain, nerve, heart, kidney and liver. Such defects encompass a wide spectrum of clinical disease, presenting in the neonatal period or infancy with recurrent hypoketotic hypoglycaemic encephalopathy, liver dysfunction, hyperammonaemia and often cardiac dysfunction. In older children, adolescence or adults there is often exercise intolerance with episodic myalgia or rhabdomyolysis in association with prolonged aerobic exercise or other exacerbating factors. Some disorders are particularly associated with toxic metabolites that may contribute to encephalopathy, polyneuropathy, axonopathy and pigmentary retinopathy. The phenotypic diversity encountered in defects of fat oxidation is partly explained by genotype/phenotype correlation and certain identifiable environmental factors but there remain many unresolved questions regarding the complex interaction of genetic, epigenetic and environmental influences that dictate phenotypic expression. It is becoming increasingly clear that the view that most inherited disorders are purely monogenic diseases is a naive concept. In the future our approach to understanding the phenotypic diversity and management of patients will be more realistically achieved from a polygenic perspective.

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Section: Carnitine Palmitoyltransferase Type 1 Deficiency (Cpt1a)mentioning

confidence: 89%

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

Olpin

2013

J of Inher Metab Disea

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“…7 8 Liver dysfunction is common during acute illnesses in many fatty acid oxidation disorders; however, cholestatic jaundice is very rarely reported. 9 A case of CPT1 deficiency which manifested in an adolescent boy has been reported where he presented with jaundice and hepatic encephalopathy. 10 Our patient's presentation is unique as the jaundice resolved after a long period.…”

Section: Discussionmentioning

confidence: 99%

Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

et al. 2022

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Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.

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“…These children who recover are at risk for recurrent episodes of life-threatening illnesses. CPT1A deficiency was reported in a child with jaundice and diffuse macrovesicular steatosis that was spontaneously resolved in months [10]. Initial presentation may occur later in life with similar life-threatening acute hepatic illness as late as a cause of death in a 17-year-old boy [11].…”

Section: Discussionmentioning

confidence: 99%

Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists

2019

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Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

Cited by 6 publications

References 9 publications

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists

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