Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review

Sharef Waadallah Sharef; Khalfan Al-Senaidi; Joshi , Surendra Nath

doi:10.5001/omj.2013.101

Article Details

Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review

Authors:

Sharef Waadallah Sharef | Khalfan Al-Senaidi | Joshi , Surendra Nath

Publisher:

Oman Medical Specialty Board

Main Topics:

Medicine

Journal:

Oman Medical Journal 2013 vol.28 Issue 5, pp.354-356

Document Type:

Article

Publication Date:

9/2013

Document Language:

English

Document ID (Org No.):

35808

Frequency:

Bi-Monthly

eISSN:

20705204

pISSN:

1999768X

DOI:

10.5001/omj.2013.101

Descriptors:

Keywords:

Abstract:

 Very long-chain acyl-CoA dehydrogenase deficiency (MIM201475) is a severe defect of mitochondrial energy productionfrom oxidation of very long-chain fatty acids. This inheritedmetabolic disorder often presents in early neonatal period withepisodes of symptomatic hypoglycemia usually responding well tointravenous glucose infusion. These babies are often dischargedithout establishment of diagnosis but return by 2-5 months of age with severe and progressive cardiac failure due to hypertrophiccardiomyopathy with or without hepatic failure and steatosis. Anearly diagnosis and treatment with high concentration mediumchain triglycerides based feeding formula can be life saving insuch patients. Here, we report the first diagnosed and treatedcase of Very long-chain acyl-CoA dehydrogenase deficiency inOman. This infant developed heart failure with left ventriculardilation, hypertrophy and pericardial effusion at the age of 7 weeks. Prompt diagnosis and subsequent intervention with medium chaintriglycerides-based formula resulted in a reversal of severe clinicalsymptoms with significant improvement of cardiac status. Thistreatment also ensured normal growth and neurodevelopment. Itis stressed that the disease must be recognized by the pediatriciansand cardiologists since the disease can be identified by TandemMass Spectrometry; therefore, it should be considered to beincluded in expanded newborn screening program, allowing earlydiagnosis and intervention in order to ensure better outcome andprevent complications.

Article Details

Successful Treatment of Cardiomyopathy due to Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: First Case Report from Oman with Literature Review

Authors:

Sharef Waadallah Sharef | Khalfan Al-Senaidi | Joshi , Surendra Nath

Publisher:

Oman Medical Specialty Board

Main Topics:

Medicine

Journal:

Oman Medical Journal 2013 vol.28 Issue 5, pp.354-356

Document Type:

Article

Publication Date:

9/2013

Document Language:

English

Document ID (Org No.):

35808

Frequency:

Bi-Monthly

eISSN:

20705204

pISSN:

1999768X

DOI:

10.5001/omj.2013.101

Descriptors:

DISEASES

METABOLISM

FATTY ACIDS

MYOCARDIUM

DIAGNOSIS

PREGNANCY

SYMPTOMS

HYPOGLYCAEMIA

PATIENTS

THERAPY

Fatty acid oxidation defect

Very long

chain acyl

CoA dehydrogenase (VLCAD) deficiency

Cardiomyopathy

Medium Chain Triglycerides (MCT) based formula

Issues

Article Details

Authors: Sharef Waadallah Sharef | Khalfan Al-Senaidi | Joshi , Surendra Nath

Publisher: Oman Medical Specialty Board

Main Topics: Medicine

Journal: Oman Medical Journal 2013 vol.28 Issue 5, pp.354-356

Document Type: Article

Publication Date: 9/2013

Document Language: English

Document ID (Org No.): 35808

Frequency: Bi-Monthly

eISSN: 20705204

pISSN: 1999768X

DOI: 10.5001/omj.2013.101

Descriptors:

Issues

Authors:

Sharef Waadallah Sharef | Khalfan Al-Senaidi | Joshi , Surendra Nath

Publisher:

Oman Medical Specialty Board

Main Topics:

Medicine

Journal:

Oman Medical Journal 2013 vol.28 Issue 5, pp.354-356

Document Type:

Article

Publication Date:

9/2013

Document Language:

English

Document ID (Org No.):

35808

Frequency:

Bi-Monthly

eISSN:

20705204

pISSN:

1999768X

DOI:

10.5001/omj.2013.101