3-HMG Coenzyme A Lyase Deficiency: Macrocephaly and Left Ventricular Noncompaction with a Novel Mutation

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• 作者：Tülin K?ksal ; Mehmet Gündüz ; Eda ?zayd?n ; Emine Azak
• 关键词：3 ; hydroxy ; 3 ; methylglutaryl ; coenzyme A lyase ; Macrocephaly ; Left ventricular noncompaction
• 刊名：The Indian Journal of Pediatrics
• 出版年：2015
• 出版时间：July 2015
• 年：2015
• 卷：82
• 期：7
• 页码：645-648
• 全文大小：278 KB
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• 作者单位：Tülin K?ksal (1)
  Mehmet Gündüz (2)
  Eda ?zayd?n (1) (4)
  Emine Azak (3)
  
  1. Infancy Service, Ministry of Health, Ankara Children’s Health and Diseases, Hematology-Oncology Hospital, Ankara, Turkey
  2. Division of Nutrition and Metabolism, Ministry of Health, Ankara Children’s Health and Diseases, Hematology-Oncology Hospital, Ankara, Turkey
  4. Ziraat Mahallesi ?rfan Ba?tu? Caddesi Kurtdereli Sokak, Ankara, Turkey
  3. Department of Pediatric Cardiology, Ministry of Health, Ankara Children’s Health and Diseases, Hematology-Oncology Hospital, Ankara, Turkey
  
• 刊物主题：Pediatrics; Gynecology;
• 出版者：Springer India
• ISSN：0973-7693

文摘

3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency, an inborn error of ketone body synthesis and leucine degradation, is a rare autosomal recessive disease. There are a few reports demonstrating clinical and neuroradiologic findings of this condition. The authors report case of an 8-mo-old infant with HMG-CoA lyase deficiency, who presented with macrocephaly, left ventricular noncompaction, recurrent pulmonary infections, nonketotic hypoglycemia, seizure and metabolic acidosis. There was no significant difference in brain magnetic resonance imaging after leucine-restricted diet and carnitine therapy and neurologic deterioration was not observed. Left ventricular noncompaction is an interesting finding for HMG-CoA lyase deficiency which has not been reported in the literature. The genetic analysis revealed a novel homozygote deletion in exon 3 and 4 in HMGCL gene. HMG-CoA lyase deficiency should be thought in the patients with hypoketotic hypoglycemia, hyperammonemia, elevated liver function tests, noncompaction left ventricle and characteristic white matter changes and in the differential diagnosis of macrocephaly.