Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review

Majid Alfadhel; Amir Babiker

doi:10.24911/SJP.2018.1.3

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Sudan J Paed. 2018; 18(1): 10-23

doi: 10.24911/SJP.2018.1.3

Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review

Majid Alfadhel, Amir Babiker.

Abstract
Inborn errors of metabolism (IEM) are heterogeneous group of disorders that might present in the clinics or emergency departments in different phenotypes, and one of these is a diabetes scenario. Diabetes is the most common endocrine disorder among children. The mechanism of how IEM could lead to diabetes is unclear; however, the postulated pathogenesis consists of three mechanisms: 1) accumulation of toxic substance in the gland, ruining structure and normal functionality, 2) disturbing energy availability required for hormone synthesis and 3) defect of complex molecules. The differential diagnosis of IEM associated with hyperglycaemic ketoacidosis and diabetes include: organic acidemias specifically propionic acidemia, methylmalonic acidemia, isovaleric acidemia, hereditary hemochromatosis, aceruloplasminemia, holocarboxylase synthetase deficiency, β-ketothiolase deficiency and finally, cystinosis, Rogers syndrome (thiamine-responsive megaloblastic anaemia) and congenital disorders of glycosylation type Ia. Clinical approach will help in ready diagnosis and treatment for IEM disorders in early detection of diabetes. In this review, we will discuss the differential diagnosis, clinical features and diagnostic approaches of IEM presenting as hyperglycaemic ketoacidosis and diabetes.

Key words: Aceruloplasminemia; Congenital disorders of glycosylation; Cystinosis; Diabetes mellitus; Hemochromatosis; Inborn errors of metabolism; Mitochondrial disorders; Organic aciduria; Rogers syndrome.

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Pubmed Style

Alfadhel M, Babiker A. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. Sudan J Paed. 2018; 18(1): 10-23. doi:10.24911/SJP.2018.1.3

Web Style

Alfadhel M, Babiker A. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. https://sudanjp.com//?mno=297820 [Access: June 21, 2024]. doi:10.24911/SJP.2018.1.3

AMA (American Medical Association) Style

Alfadhel M, Babiker A. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. Sudan J Paed. 2018; 18(1): 10-23. doi:10.24911/SJP.2018.1.3

Vancouver/ICMJE Style

Alfadhel M, Babiker A. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. Sudan J Paed. (2018), [cited June 21, 2024]; 18(1): 10-23. doi:10.24911/SJP.2018.1.3

Harvard Style

Alfadhel, M. & Babiker, . A. (2018) Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. Sudan J Paed, 18 (1), 10-23. doi:10.24911/SJP.2018.1.3

Turabian Style

Alfadhel, Majid, and Amir Babiker. 2018. Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. Sudanese Journal of Paediatrics, 18 (1), 10-23. doi:10.24911/SJP.2018.1.3

Chicago Style

Alfadhel, Majid, and Amir Babiker. "Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review." Sudanese Journal of Paediatrics 18 (2018), 10-23. doi:10.24911/SJP.2018.1.3

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Alfadhel, M. & Babiker, . A. (2018) Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. Sudanese Journal of Paediatrics, 18 (1), 10-23. doi:10.24911/SJP.2018.1.3

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