Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency

Choi,Jin-Ho; Yoon,Hye-Ran; Kim,Gu-Hwan; Park,Seong-Jong; Shin,Young-Lim; Yoo,Han-Wook

doi:10.3892/ijmm.19.1.81

January 2007 Volume 19 Issue 1

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January 2007 Volume 19 Issue 1

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Article

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency

Authors:
- Jin-Ho Choi
- Hye-Ran Yoon
- Gu-Hwan Kim
- Seong-Jong Park
- Young-Lim Shin
- Han-Wook Yoo
View Affiliations / Copyright

Affiliations: Department of Pediatrics, Chungnam National University Hospital, College of Medicine, Chungnam National University, Daejeon 301-721, Korea
Pages: 81-87
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Published online on: January 1, 2007

https://doi.org/10.3892/ijmm.19.1.81
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Abstract

Patients with long-chain 3-hydroxyacyl coenzyme A dehydrogenase (LCHAD) deficiency manifest hypoketotic hypoglycemia, hepatomegaly, hypotonia, lactic acidemia, acute renal failure, cardiomyopathy, and sudden death. We describe four novel mutations of the α- and β-subunits of the mitochondrial trifunctional protein in four patients from three unrelated families. Their plasma acylcarnitine profiles suggested the presence of LCHAD deficiency by demonstrating highly elevated 3-hydroxyacyl carnitines by tandem mass spectrometry (MS/MS). Patients 1 and 2 had siblings who had died of lactic acidemia during the neonatal period. These patients also manifested lactic acidemia and died in the neonatal period. Patient 3 had a family history of Reye-like syndrome. She exhibited acute renal failure, rhabdomyolysis, pericardial effusion, and myopathy at the age of 12 years. DNA analysis of patients 1 and 2 revealed homozygosity for a c.1689+2T>G mutation of the HADHA gene, resulting in the skipping of exon 16 with an in-frame 69-bp deletion. Patient 3 was a compound heterozygosity of the HADHB gene, N307D/N389D. Patient 4, a 25-month-old baby, manifested recurrent episodes of lethargy, metabolic acidosis, elevated liver enzymes, and dark urine from the age of 10 months. Mutation analysis of the HADHB gene of patient 4 identified compound heterozygosity of N114D/N307D.

Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Identification of novel mutations of the HADHA and HADHB genes in patients with mitochondrial trifunctional protein deficiency

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Abstract

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