Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.

作者信息

Mangla Pragya, Gambhir Poonam Singh, Sudhanshu Siddhnath, Srivastava Priyanka, Rai Archana, Bhatia Vijayalakshmi, Phadke Shubha R

机构信息

Department of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India.

出版信息

Indian J Pediatr. 2017 Dec;84(12):959-960. doi: 10.1007/s12098-017-2430-1. Epub 2017 Aug 23.

DOI:10.1007/s12098-017-2430-1

PMID:28831725

Abstract

摘要

相似文献

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.

Indian J Pediatr. 2017 Dec;84(12):959-960. doi: 10.1007/s12098-017-2430-1. Epub 2017 Aug 23.

Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis.

J Pediatr Endocrinol Metab. 2021 Apr 16;34(7):947-950. doi: 10.1515/jpem-2020-0646. Print 2021 Jul 27.

[Pyruvate carboxylase deficiency].

Nihon Rinsho. 2002 Apr;60 Suppl 4:755-8.

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Mol Genet Metab. 2006 Feb;87(2):175-7. doi: 10.1016/j.ymgme.2005.10.007. Epub 2005 Dec 1.

Disorders of pyruvate metabolism.

Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4.

MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.

J Child Neurol. 1994 Oct;9(4):436-9. doi: 10.1177/088307389400900421.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.

[Pyruvate carboxylase deficiency].

Ryoikibetsu Shokogun Shirizu. 2001(36):100-2.

[Mitochondrial pyruvate carboxylase].

Nihon Rinsho. 2002 Apr;60 Suppl 4:122-5.

[Pyruvate carboxylase deficiency].

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):345-7.

引用本文的文献

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

Mol Genet Metab Rep. 2024 Mar 21;39:101073. doi: 10.1016/j.ymgmr.2024.101073. eCollection 2024 Jun.

Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Front Pediatr. 2022 Apr 28;10:825515. doi: 10.3389/fped.2022.825515. eCollection 2022.

本文引用的文献

Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.

JIMD Rep. 2013;11:43-7. doi: 10.1007/8904_2013_220. Epub 2013 Apr 2.

Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis.

Pediatr Emerg Care. 2011 Dec;27(12):1180-1. doi: 10.1097/PEC.0b013e31823b412d.

Inborn errors of ketogenesis and ketone body utilization.

J Inherit Metab Dis. 2012 Jan;35(1):23-8. doi: 10.1007/s10545-011-9324-6. Epub 2011 Apr 9.

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9.

Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate?

J Inherit Metab Dis. 1980;3(4):113-6. doi: 10.1007/BF02312544.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验

相似文献

Pyruvate Carboxylase Deficiency Mimicking Diabetic Ketoacidosis.

Indian J Pediatr. 2017 Dec;84(12):959-960. doi: 10.1007/s12098-017-2430-1. Epub 2017 Aug 23.

Pyruvate carboxylase deficiency type C as a differential diagnosis of diabetic ketoacidosis.

J Pediatr Endocrinol Metab. 2021 Apr 16;34(7):947-950. doi: 10.1515/jpem-2020-0646. Print 2021 Jul 27.

[Pyruvate carboxylase deficiency].

Nihon Rinsho. 2002 Apr;60 Suppl 4:755-8.

A case of pyruvate carboxylase deficiency with atypical clinical and neuroradiological presentation.

Mol Genet Metab. 2006 Feb;87(2):175-7. doi: 10.1016/j.ymgme.2005.10.007. Epub 2005 Dec 1.

Disorders of pyruvate metabolism.

Handb Clin Neurol. 2013;113:1667-73. doi: 10.1016/B978-0-444-59565-2.00034-4.

MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency.

J Child Neurol. 1994 Oct;9(4):436-9. doi: 10.1177/088307389400900421.

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

Hum Mutat. 2009 May;30(5):734-40. doi: 10.1002/humu.20908.

[Pyruvate carboxylase deficiency].

Ryoikibetsu Shokogun Shirizu. 2001(36):100-2.

[Mitochondrial pyruvate carboxylase].

Nihon Rinsho. 2002 Apr;60 Suppl 4:122-5.

[Pyruvate carboxylase deficiency].

Ryoikibetsu Shokogun Shirizu. 1998(18 Pt 1):345-7.

引用本文的文献

Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.

Mol Genet Metab Rep. 2024 Mar 21;39:101073. doi: 10.1016/j.ymgmr.2024.101073. eCollection 2024 Jun.

Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Front Pediatr. 2022 Apr 28;10:825515. doi: 10.3389/fped.2022.825515. eCollection 2022.

本文引用的文献

Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation.

JIMD Rep. 2013;11:43-7. doi: 10.1007/8904_2013_220. Epub 2013 Apr 2.

Gluconeogenesis defect presenting with resistant hyperglycemia and acidosis mimicking diabetic ketoacidosis.

Pediatr Emerg Care. 2011 Dec;27(12):1180-1. doi: 10.1097/PEC.0b013e31823b412d.

Inborn errors of ketogenesis and ketone body utilization.

J Inherit Metab Dis. 2012 Jan;35(1):23-8. doi: 10.1007/s10545-011-9324-6. Epub 2011 Apr 9.

Pyruvate carboxylase deficiency: mechanisms, mimics and anaplerosis.

Mol Genet Metab. 2010 Sep;101(1):9-17. doi: 10.1016/j.ymgme.2010.05.004. Epub 2010 Jun 9.

Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate?

J Inherit Metab Dis. 1980;3(4):113-6. doi: 10.1007/BF02312544.