ReviewSudanese journal of paediatrics2018
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review.
Review in Sudanese journal of paediatrics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Endocrine system disturbances in children with inherited metabolic diseases: a narrative review.Frontiers in endocrinology · 2025Review
- Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.Molecular genetics & genomic medicine · 2024Article
- Diabetic ketoacidosis in an adult with beta-ketothiolase deficiency (BKD) involving a novel ACAT1 variant : first report of established diabetes in BKD and a review of the literature.Clinical diabetes and endocrinology · 2024Review
- Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.Molecular genetics and metabolism reports · 2024Article
- Newborn screening for isovaleric acidemia: A case report of a Chinese patient with novel variants.Molecular genetics and metabolism reports · 2024Article
- Direct Infusion Mass Spectrometry to Rapidly Map Metabolic Flux of Substrates Labeled with Stable Isotopes.Metabolites · 2024Article
- An exploratory investigation of the CSF metabolic profile of HIV in a South African paediatric cohort using GCxGC-TOF/MS.Metabolomics : Official journal of the Metabolomic Society · 2024Article
- Pathophysiological mechanisms of complications associated with propionic acidemia.Pharmacology & therapeutics · 2023Review
- The Geroprotective Drug Candidate CMS121 Alleviates Diabetes, Liver Inflammation, and Renal Damage in db/db Leptin Receptor Deficient Mice.International journal of molecular sciences · 2023Article
- Thiamine deficiency in pregnancy and lactation: implications and present perspectives.Frontiers in nutrition · 2023Review
- Trends of congenital hypothyroidism and inborn errors of metabolism in Pakistan.Orphanet journal of rare diseases · 2020Review
- BCG Vaccinations Upregulate Myc, a Central Switch for Improved Glucose Metabolism in Diabetes.iScience · 2020Article
- Euglycemic Ketoacidosis.Current diabetes reports · 2020Review
- Neurological, Psychiatric, and Biochemical Aspects of Thiamine Deficiency in Children and Adults.Frontiers in psychiatry · 2019Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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Registered trials
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