SHM Converge Scientific Abstract ePoster Gallery-Overcoming the Triple Challenge of Ornithine Transcarbamylase Deficiency, Diabetes Mellitus, and Protein Limits

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This poster describes the clinical challenge of managing a patient with ornithine transcarbamylase deficiency (OTCD) and diabetes mellitus. OTCD is a rare X-linked urea cycle disorder that impairs ammonia detoxification and can lead to hyperammonemic encephalopathy, especially during stressors such as fasting, illness, pregnancy, steroid use, or high-protein intake. Symptoms may include nausea, vomiting, altered behavior, delirium, and seizures.<br /><br />The case involves a 61-year-old woman diagnosed with diabetes in October 2023 and OTCD managed by a genetics specialist. Her diabetes was initially poorly controlled due to inconsistent insulin use and irregular meals, but her HbA1c improved from 9.3 to 8.4 by July 2024. She had a history of seizures, triggered previously by pregnancy, steroids, and medication noncompliance. Because of concern that protein intake could worsen her OTCD and fear of hypoglycemia-related seizures, she consumed excess carbohydrates.<br /><br />At endocrine follow-up, continuous glucose monitoring was initiated with hypoglycemia alerts, insulin therapy was adjusted, and personalized dietary counseling was provided. The poster emphasizes that standard diabetic diets, which often recommend protein restriction? Actually, standard carb-controlled higher-protein approaches can be dangerous in OTCD. Instead, patients need a low-protein, high-carbohydrate, high-calorie diet, with careful monitoring of plasma ammonia, glutamine, and essential amino acids to guide protein restriction and ammonia scavenger therapy. Some protein needs should be met through essential amino acid medical foods to prevent catabolism.<br /><br />The discussion highlights the importance of close coordination between endocrinology, nutrition, and metabolic specialists. In acute hyperammonemia, treatment may require strict protein restriction, dextrose-containing IV fluids, ammonia scavengers, and possibly renal replacement therapy for severe ammonia elevations. Preventing hypoglycemia is also critical because it can trigger seizures.

Asset Subtitle

Ambika Singh

Meta Tag

Author List Ambika Singh, Arvind Krishna, Jennifer Bolyard

Category Clinical Vignettes

Concept Ornithine Transcarbamylase

Concept Urea Cycle

Concept OTC Deficiency

Concept Ammonia

Concept Hyperammonemia

Distinguished Non-Finalist

Presenter Organization NEOMED/Canton Medical Education Foundation (CMEF)

Presenting Author Ambika Singh

Track Adult

Keywords

ornithine transcarbamylase deficiency

OTCD

diabetes mellitus

hyperammonemic encephalopathy

urea cycle disorder

hypoglycemia

continuous glucose monitoring

insulin therapy

low-protein diet

ammonia scavenger therapy

Ornithine Transcarbamylase

Urea Cycle

OTC Deficiency

Ammonia

Hyperammonemia