Case Presentation: – Patient is a 61-year-old female diagnosed with Ornithine Transcarbamylase Deficiency (OTCD) several years ago with hospitalizations for three seizure episodes since diagnosis. These seizures had been triggered by pregnancy, steroids and once due to non-compliance with OTCD medications, respectively. – She got diagnosed with Type 2 Diabetes Mellitus more recently in October 2023 (HbA1c 9.3%). She had been non-compliant with the prescribed insulin regimen and dependent on her husband for the injections. She is sometimes forgetful, possibly due to neuropsychologic complications from OTCD.- She was eating excessive carbohydrate rich foods throughout the day due to her concerns about limiting dietary protein in fear of having low blood glucose as a trigger for repeat seizures given her underlying OTCD- OTCD was being treated with L-citrulline 1g BID, levetiracetam for seizure prophylaxis, and glycerol phenylbutyrate TID by a specialist and geneticist at a tertiary care hospital.- On evaluation at our endocrinology clinic, a CGM sensor was placed to assess glycemic trends, set up predictive alerts for hypoglycemia and modify her insulin regimen accordingly. Patient and her husband were provided customized dietary advice by in-house dietician.- Based on OTC symptom status and biomarkers, the dietician recommended that 30-50% of her restricted total protein needed to come from essential amino acid medical foods (like protein supplements) to prevent catabolism.
Discussion: – Diabetes mellitus with OTCD requires special attention and expertise in both nutrition and glucose management during hospitalization. – The standard carb controlled, higher protein diet usually suggested for DM may contribute to serious complications in diabetics with underlying OTCD. – Biomarkers (including plasma ammonia, glutamine and essential amino acids) along with symptom status help to guide the level of protein restriction, hyperammonemia risk and adjustment of nitrogen scavenger therapy for OTCD. Close glycemic monitoring with adjustment of insulin / anti-diabetic medications is also important to avoid hypoglycemia which again is a trigger for seizures in OTCD patients.
Conclusions: – Awareness of the special dietary and management needs of diabetic patients with underlying OTCD is crucial to avoiding complications. – In the acute hospital setting, management of hyperammonemia from OTCD should include strict limitation of exogenous protein intake and giving IV fluids containing dextrose and if needed additional intralipids via a central line. [1]- Despite DM, the diet should be a low protein, high carbohydrate, high calorie diet with close glycemic monitoring.- If this type of patient is presenting to the ER with seizure, they should be loaded with levetiracetam. Remember, Valproic acid is contraindicated in these patients. – Start an ammonia scavenger medication – CVVHD or CKRT can be used to prevent irreversible brain edema for ammonia levels over 1000 [4]- Lastly, a medic alert ID can be lifesaving by alerting healthcare providers
