Carnitine Palmitoyltransferase II Deficiency, Infantile

Last update 01 Nov 2024

Basic Info

Synonyms

CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY WITH HYPOKETOTIC HYPOGLYCEMIA, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, HEPATOCARDIOMUSCULAR, CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE

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Introduction

The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

100 Clinical Results associated with Carnitine Palmitoyltransferase II Deficiency, Infantile

100 Translational Medicine associated with Carnitine Palmitoyltransferase II Deficiency, Infantile

0 Patents (Medical) associated with Carnitine Palmitoyltransferase II Deficiency, Infantile

Literatures (Medical) associated with Carnitine Palmitoyltransferase II Deficiency, Infantile

29 Jan 2024·Journal of Pediatric Endocrinology and Metabolism

Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form

Article

Author: Uçar, Sema Kalkan ; Yazıcı, Havva ; Aykut, Ayca ; Çelik, Merve Yoldas ; Ak, Gunes ; Güvenç, Merve Saka ; Yanbolu, Ayse Yuksel ; Bozacı, Ayse Ergül ; Er, Esra ; Canda, Ebru ; Çoker, Mahmut ; Durmaz, Asude ; Erdem, Fehime

AbstractObjectivesCarnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, have been described in CPT II deficiency. The myopathic form is usually mild and can manifest from infancy to adulthood, characterised by recurrent rhabdomyolysis episodes. The study aimed to investigate the clinical features, biochemical, histopathological, and genetic findings of 13 patients diagnosed with the myopathic form of CPT II deficiency at Ege University Hospital.MethodsA retrospective study was conducted with 13 patients with the myopathic form of CPT II deficiency. Our study considered demographic data, triggers of recurrent rhabdomyolysis attacks, biochemical metabolic screening, and molecular analysis.ResultsTen patients were examined for rhabdomyolysis of unknown causes. Two patients were diagnosed during family screening, and one was diagnosed during investigations due to increased liver function tests. Acylcarnitine profiles were normal in five patients during rhabdomyolysis. Genetic studies have identified a c.338C>T (p.Ser113Leu) variant homozygous in 10 patients. One patient showed a novel frameshift variant compound heterozygous with c.338C>T (p.Ser113Leu).ConclusionsPlasma acylcarnitine analysis should be preferred as it is superior to DBS acylcarnitine analysis in diagnosing CPT II deficiency. Even if plasma acylcarnitine analysis is impossible, CPT2 gene analysis should be performed. Our study emphasizes that CPT II deficiency should be considered in the differential diagnosis of recurrent rhabdomyolysis, even if typical acylcarnitine elevation does not accompany it.

06 Oct 2023·Cureus

Myopathic Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Rare Cause of Acute Kidney Injury and Cardiomyopathy

Author: Castillo, Efrain ; Schoenmann, Nick ; Medina, Debbie

Carnitine palmitoyltransferase II (CPT II) deficiency is a long-chain fatty acid (LCFA) oxidation disorder. There are three main types classified by symptoms and age of onset: the neonatal form, the infantile hepatocardiomuscular form, and the adult or myopathic form. The first two are early-onset severe disorders presenting with marked hypoketotic hypoglycemia, cardiomyopathy, and liver dysfunction. The latter is characterized by muscle pain and weakness and stiffness, typically triggered by exercise or febrile illnesses and occasionally associated with myoglobinuria. One of the most common complications is acute kidney injury (AKI) following massive rhabdomyolysis, which is managed with aggressive fluid therapy; crystalloid solutions are preferred. We report an otherwise healthy 38-year-old patient who presented with severe myalgia, cramps, fatigue, low-grade fever, and transient myoglobinuria, after intense physical training. Significant recurrent muscle pain was reported. Family history was unremarkable. Imaging studies showed no abnormalities. Echocardiogram showed a left ventricle ejection fraction (LVEF) of 40%. Acetylcarnitine analysis with tandem mass spectrometry and molecular tests confirmed the diagnosis. Fluid resuscitation was started. Acute kidney injury was diagnosed and managed with plasmapheresis and five sessions of hemodialysis. The patient was discharged upon the improvement of renal function with lifestyle modification recommendations. In otherwise healthy young adults presenting with myalgia and rhabdomyolysis triggered by physical activity or infection, CPT II deficiency should be considered, and genetic testing should be initiated to provide an opportunity for patients to modify their daily lifestyle, preventing future attacks and the development of complications.

17 Jun 2022·Cureus

A Case of Carnitine Palmitoyltransferase II Deficiency in Bahrain With a Novel Mutation

Author: Khalil, Mohamed ; Alsahlawi, Zahra ; Aljishi, Emtithal ; Mahmood, Ali ; Fadhul, Zainab ; Mohamed, Ali

Carnitine palmitoyltransferase II (CPT II) deficiency is a rare genetic metabolic disorder. Three forms of the disease have been described: the lethal neonatal form, the severe infantile hepatocardiomuscular form, and the myopathic form. We report a case of the infantile form of CPT II deficiency with a novel mutation. Our patient is a seven-year-old Bahraini male who was investigated by the pediatric metabolic team following the sudden death of his twin sister in infancy. A fatty acid metabolic disorder was suspected based on his echocardiogram and tandem mass spectrometry (TMS) findings. Genetic analysis was initially inconclusive. Nonetheless, he was started on a fat-free diet, L-carnitine, and medium-chain triglycerides (MCT). At nearly two years of age, the patient had a metabolic crisis precipitated by a viral illness. TMS during this time was consistent with CPT II deficiency. Sanger sequencing then identified the presence of the variant c.161T>G (p.ille54Ser) in a homozygous state, confirming the diagnosis. Although this mutation has not been reported before in previous literature concerning CPT II deficiency, it is extremely likely that this mutation is pathogenic. Although the initial work-up of the patient was inconclusive, our clinical judgment was paramount in managing the patient.

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Carnitine Palmitoyltransferase II Deficiency, Infantile

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