Primary carnitine deficiency cardiomyopathy

Wang, Shushui; Rao, Jiao; Li, Yufen; Zhang, Zhiwei; Zeng, Guohong

doi:10.1016/j.ijcard.2014.03.190

Cited by 26 publications

(25 citation statements)

References 8 publications

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“…Although most patients with carnitine deficiency are asymptomatic, it can cause muscle weakness, hypotonia, nausea and vomiting, fatigue, recurrent infection, failure to thrive, poor appetite, poor concentration, apathy, and headaches. Furthermore, carnitine deficiency can occasionally cause severe and life-threatening complications, including hypoglycemic encephalopathy and dilated cardiomyopathy [1, 2]. …”

Section: Introductionmentioning

confidence: 99%

Carnitine-related hypoglycemia caused by 3 days of pivalate antibiotic therapy in a patient with severe muscular dystrophy: a case report

et al. 2017

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BackgroundLong-term treatment with antibiotics containing pivalic acid may decrease serum carnitine concentration and can sometimes be associated with severe hypoglycemia and encephalopathy in infants. Little has been reported, however, on severe hypocarnitinemia induced by acute administration in older children.Case presentationWe describe a 6-year-old Japanese girl with Fukuyama-type congenital muscular dystrophy who lost consciousness after 3 days of treatment with an antibiotic containing pivalic acid (cefditoren pivoxil). Investigations at the onset of unconsciousness revealed hypoglycemia (free plasma glucose concentration: 31 mg/dL) and hypocarnitinemia (serum free carnitine concentration: 6.2 μmol/L). Intravenous administration of glucose rapidly improved her symptoms without any complications. Serum free carnitine concentration was 29.0 μmol/L immediately prior to the initiation of cefditoren pivoxil. Computed tomography scanning showed severe peripheral skeletal muscle atrophy, indicating the likelihood of decreased carnitine stores in skeletal muscle.ConclusionsAlthough serum carnitine concentration can appear deceptively normal, skeletal muscle carnitine stores can be reduced in patients with severe muscular atrophy. Even a short course of a pivalate-containing antibiotic can lead to life-threatening hypocarnitinemia in older children with severe muscular dystrophy.

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Section: Introductionmentioning

confidence: 99%

Carnitine-related hypoglycemia caused by 3 days of pivalate antibiotic therapy in a patient with severe muscular dystrophy: a case report

et al. 2017

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“…Повідомляється про ГКМП, що розвиваються внаслідок дизфункції мітохондрій кардіоміоци-тів, при яких порушення можуть відноситись до дефектів метаболізму карнітину С, ферменту бе-та-окислення жирних кислот, до системи піруват-дегідрогеназного комплексу та циклу лимонної кислоти, до ферментів дихального ланцюга або дефіциту ферментів в одному або декількох ком-понентах клітини [21,22,29].…”

Section: оглядові статтіunclassified

“…Може розви-нутись передсердна або шлуночкова аритмія, ви-ражена брадикардія. Традиційне лікування СН не має ефекту [29].…”

Section: оглядові статтіunclassified

“…Сумуючи дані літератури [23,24,29,30], можна ви-значити групу найбільш розповсюджених генів, му-тації яких призводять до формування гіпертрофічної або дилатаційної кардіоміопатій (табл .1) [1,3,31,32].…”

Section: неонатологія хірургія та перинатальна медицина т VI № 1(1unclassified

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Differential diagnosis of neonatal cardiomyopathy

Honchar¹,

Boychenko²,

Сенаторова³

2016

Neonatol. hìr. perinat. med.

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“…In contrast, severe myocardial hypertrophy in children, and especially, in infants, needs more extensive diagnostic work up due to a wide spectrum of inborn errors of metabolism, monogenic syndromes and chromosomal aberrations [4][5][6]. Pediatric patients with hypertrophic cardiomyopathy diagnosed in the first six months of life represent a group with a very poor prognosis and limited treatment options [7].…”

mentioning

confidence: 99%