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

Phowthongkum, Prasit; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk

doi:10.3350/cmh.2018.0114

Cited by 6 publications

(4 citation statements)

References 14 publications

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“…It is described as hepatic and cardiac failure causing early death in newborns (Janeiro et al, 2019[ 7 ]). Nonetheless, CPT I deficiency was also described in an adult, recently (Phowthongkum et al, 2019[ 12 ]).…”

Section: Discussionmentioning

confidence: 99%

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Schnedl¹,

Enko

Mangge

2020

EXCLI Journal; 19:Doc1309; ISSN 1611-2156

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Section: Discussionmentioning

confidence: 99%

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Schnedl¹,

Enko

Mangge

2020

EXCLI Journal; 19:Doc1309; ISSN 1611-2156

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“…While there are some case reports of adults with CPT1A deficiency, most have had less severe presentations of liver dysfunction prior to presenting with liver failure or have been diagnosed in childhood. In one case report, an adult patient, not previously known to have CPT1A deficiency, presented with cholestatic jaundice during a pregnancy with Graves disease, and a subsequent presentation with jaundice and fatty liver during intercurrent illness 3 . This patient retrospectively had symptoms for many years.…”

Section: Discussionmentioning

confidence: 99%

“…In one case report, an adult patient, not previously known to have CPT1A deficiency, presented with cholestatic jaundice during a pregnancy with Graves disease, and a subsequent presentation with jaundice and fatty liver during intercurrent illness. [3] This patient retrospectively had symptoms for many years.…”

Section: Discussionmentioning

confidence: 99%

Liver transplantation for acute-on-chronic liver failure due to carnitine palmitoyl transferase (CPT) 1A deficiency

Smart

Bratkovic

Muller

2023

Liver Transplantation

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To the editor, Carnitine palmitoyl transferase (CPT) 1A deficiency is a rare autosomal recessive condition deriving from a mutation in the CPT1A gene. Carnitine is found in nearly all cells of the body, and the CPT pathway has a crucial role in energy production through its enzyme and transporting functions. CPT1A (the hepatic isoform) is located on the outside of the mitochondrial membrane and is essential in transport of fatty acids to facilitate fatty acid oxidation. [1] A defect in the CPT1A pathway results in the inability to transport or break down longchain fatty acids.CPT1A deficiency commonly presents in children with symptoms of hypoketotic hypoglycemia, liver dysfunction, and encephalopathy during periods of fasting. The worldwide incidence is 1:500,000 to 1:1,000,000. Diagnosis is made by finding elevated total and free plasma carnitine levels and confirmed by a demonstrable mutation of the CPT1A gene or by means of enzyme activity in fibroblasts. [1] We describe a case of CPT1A deficiency presenting with acute-on-chronic liver failure (ACLF) in a previously well adult. It is believed to be the first reported case of an adult presentation requiring liver transplantation for hepatic failure due to CPT1A deficiency. Written informed consent was obtained from the patient prior to submission of this case report.

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“…A ce jour, l’enzyme le plus affecté reste celui du foie. L’âge d'apparition se situe entre la naissance et 18 mois mais des cas adultes ont été décrits [ 4 ]. Ainsi, on aura des manifestations dès la période néonatale par des épisodes d’hypoglycémies hypocétosiques généralement associé ou non à une insuffisance hépatique aiguë [ 3 ].…”

Section: Discussionunclassified

Une cardiomyopathie révélant un déficit en carnitine palmitoyltransférase I: à propos d´un cas inhabituel

Fetoui¹,

Fakiri²,

Rada³

et al. 2020

PAMJ

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Les déficits en carnitine palmitoyltransférase (CPT) sont des atteintes rares due à un défaut d'oxydation des acides gras. Patient de 10 ans sans antécédant présente une dyspnée aigue associée à une toux productive dans un contexte fébrile et d’altération de l’état général. Le patient était polypnéique, tachycarde avec un souffle systolique mitral sans signes d’insuffisance cardiaque. La radiographie thoracique a identifié une cardiomégalie et l'échocardiographie montrait une cardiomyopathie dilatée hypokinétique. Il s’agissait d’un déficit en CPT I. La prise en charge consistait en un traitement de sa cardiopathie et un régime strict hypolipidique et hyperglucidique. Trois mois plutard, le patient se présente une décompensation en insuffisance cardiaque congestive par une infection à Aeromonas caviae résistant identifié à l’hémoculture. Une cardiomyopathie dilatée devrait faire penser au déficit en CPT pour une prise en charge précoce qui peut compromettre le pronostic.

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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

Cited by 6 publications

References 14 publications

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Severe rhabdomyolysis in homozygote carnitine palmitoyltransferase II deficiency

Liver transplantation for acute-on-chronic liver failure due to carnitine palmitoyl transferase (CPT) 1A deficiency

Une cardiomyopathie révélant un déficit en carnitine palmitoyltransférase I: à propos d´un cas inhabituel

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