Kidney Week

Abstract: SA-PO0605

Metabolic Decompensation Precipitated by Substance Use and High-Protein Intake in a Patient with Holocarboxylase Synthetase Deficiency

Session Information

• Fluid, Electrolyte, and Acid-Base Disorders: Case Reports - 2
  October 24, 2026 | Location: Exhibit Hall A, Convention Center
  Abstract Time: 10:00 AM - 12:00 PM

Category: Fluid, Electrolytes, and Acid-Base Disorders

• 1102 Fluid, Electrolyte, and Acid-Base Disorders: Clinical

Authors

• Doshi, Mithil, Lower Bucks Hospital, Bristol, Pennsylvania, United States

Mithil Doshi, MD

• Muddaloor, Pratyusha, Lower Bucks Hospital, Bristol, Pennsylvania, United States

Pratyusha Muddaloor, MD

• Pathalapati, Radhika, Lower Bucks Hospital, Bristol, Pennsylvania, United States

Radhika Pathalapati, MD

Introduction

Holocarboxylase synthetase deficiency (HLCS) is a rare autosomal recessive disorder caused by HLCS mutations, impairing biotinylation of carboxylases, disrupting protein, fat and carbohydrate metabolism. This affects cellular functions, resulting in life-threatening ketoacidosis, organic acidemia and aciduria. We report a biotin-compliant young adult with severe metabolic acidosis following stimulant use and high protein intake, highlighting the need to recognize these triggers in the routine management of HLCS.

Case Description

A 22-year-old Hispanic male with HLCS and substance use presented with vomiting and abdominal pain after consuming a hamburger. He was adherent to biotin and levocarnitine, but reported methamphetamine use. On exam, he was hypertensive, tachycardic and had diffuse abdominal tenderness with Kussmaul respirations. Labs showed severe metabolic acidosis with ketonuria and amphetamine positivity (Table 1). Acidosis was attributed to decompensated HLCS from stimulant use and high protein load. Treatment with bicarbonate infusion, aggressive fluid therapy, oral biotin, and intravenous levocarnitine resulted in a dramatic improvement (Table 1).

Discussion

Recognized triggers for metabolic decompensation in HLCS include biotin non-adherence, acute illness, fasting, and catabolic stress. While increased protein load as a trigger is not well established, there is theoretical vulnerability as it can increase the substrate flux through these impaired pathways, leading to organic acid buildup. This may be relevant in patients with incomplete biochemical correction on biotin or heightened catabolic stress. Stimulant use may further exacerbate catabolism and metabolic demand. These underrecognized triggers represent a gap in the published evidence on HLCS, warranting consideration while counselling and managing HLCS, particularly in the younger population.

Acknowledgment

ChatGPT, version 5.5, by OpenAI, was used 05/04/26 to 05/08/26 for concision and phrasing of the introduction and discussion. The authors take responsibility for the integrity of the content generated.

Table 1. Summary of labs during hospital course.