Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

Alyaa A. Kotby; Marwa M. Al-Fahham; Heba Salah A. Elabd; Osama K. Zaki

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Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

机译：54名埃及枫糖浆尿病儿童的先天性心脏病患病率

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Maple syrup urine disease (MSUD) is an autosomal recessivedisorder caused by a defect in any of the subunits of the mitochondrial branched-chain alfa ketoacid dehydrogenase (BCKAD). Themetabolic defect results in accumulation of branched-chain aminoacids (BCAAs) (leucine, isoleucine and valine) and their ketoacids [1].

机译：枫糖浆尿病（MSUD）是由线粒体支链阿尔法酮酸脱氢酶（BCKAD）的任何亚基缺陷引起的常染色体隐性遗传疾病。主题代谢缺陷导致支链氨基酸（BCAA）（亮氨酸，异亮氨酸和缬氨酸）及其酮酸的积累[1]。

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《Egyptian Journal of Medical Human Genetics》 |2018年第1期|共5页
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Alyaa A. Kotby; Marwa M. Al-Fahham; Heba Salah A. Elabd; Osama K. Zaki;
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1. Genotyping cattle for inherited congenital myoclonus and maple syrup urine disease [J] . Healy PJ, Dennis JA, Windsor PA, Australian Veterinary Journal . 2002,第11期

机译：对遗传性先天性肌阵挛和枫糖浆尿病进行基因分型
2. Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study [J] . Abdel-Hady El-Gilany, Sohier Yahia, Yahya Wahba Annals of Saudi medicine. . 2017,第5期

机译：埃及曼索拉唐氏综合症患儿的先天性心脏病患病率：一项回顾性描述性研究
3. RECAPITULATION OF METABOLIC DEFECT IN A MODEL OF MAPLE SYRUP URINE DISEASE USING PATIENT-DERIVED PRIMARY HEPATOCYTES [J] . Collado M. Sol, Olson Matthew, Armstrong Allison J., Molecular genetics and metabolism . 2018,第3期

机译：使用患者衍生的原发性肝细胞重新携带枫糖浆尿液模型中的代谢缺陷
4. Heart rate variability in children with cyanotic and acyanotic congenital heart disease: analysis by spectral and non linear indices [C] . Federico Aletti, Manuela Ferrario, Taiana Bertacini Almas de Jesus, Annual International Conference of the IEEE Engineering in Medicine and Biology Society . 2012

机译：Cyanistic和患有患有紫玉米心脏病的儿童心率变异性：光谱和非线性指标分析
5. Branched chain amino acid metabolism: Requirements in healthy adult men and patients with maple syrup urine disease. [D] . Riazi, Roya. 2003

机译：支链氨基酸代谢：健康成年男性和枫糖浆尿病患者的需求。
6. Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. [O] . Y Nobukuni, H Mitsubuchi, I Akaboshi, 1991

机译：枫糖浆尿病。该支链α-酮酸脱氢酶复合物的E1β亚基的完全缺陷是由于该疾病家族中编码线粒体靶向前导肽的11 bp重复序列的缺失所致。
7. Clinical perspective on the use of human amniotic epithelial cells to treat congenital metabolic diseases with a focus on maple syrup urine disease [O] . Chika Takano, Brendan H. Grubbs, Mika Ishige, 2021

机译：临床观点对人羊膜上皮细胞治疗先天性代谢疾病，重点对枫糖浆尿疾病
8. Diet Therapy for MSUD (Maple Syrup Urine Disease) and Organic Acidurias [R] . Ernest, A. E. , Nyhan, W. L. , Thoene, J. G. , 1976

机译：msUD（枫糖浆尿病）和有机酸尿症的饮食疗法

Prevalence of congenital heart defects among 54 Egyptian children with Maple syrup urine disease

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