Work

Hepatic Glycogenosis Resulting in Hyperammonemia in a Young Adult With Type 1 Diabetes Mellitus

Year: 2025

Type: article

Abstract: A 19-year-old male individual with poorly controlled type 1 diabetes mellitus (T1DM) of 16 years duration presented with diabetic ketoacidosis (DKA) and was found to have hepatomegaly with disproportionately elevated transaminases, hyperammonemia, and lactic acidosis, which persisted after DKA resolution. Autoimmune, infectious, metabolic, and toxic causes were excluded. Liver elastography demonstrated homogeneous, nonsteatotic, noncirrhotic enlargement. Histology revealed hepatocytes with pale or clear cytoplasm and glycogenated nuclei. Total clinical picture is consistent with Mauriac syndrome-a rare complication exclusively observed in people with T1DM with poor glycemic control, resulting in pubertal and growth delay, cushingoid facies, lactic acidosis, transaminitis, and hyperlipidemia. Although prevalence of suboptimal management of T1DM remains common, even with modern insulin delivery mechanisms, Mauriac syndrome remains rare and poorly characterized. We highlight a severe presentation of Mauriac syndrome and highlight the role of comprehensive assessment of liver dysfunction and imaging.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf298

Authors: Cong B Dinh, Alexandra L Ghaben, Ron S Newfield

Institutions: University of California San Diego, Rady Children's Hospital-San Diego

Language: English

Topic: Diabetes Management and Research

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930