# A novel HMBS gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings

## TL;DR

A new mutation in the HMBS gene was found in a patient with acute intermittent porphyria, showing that early diagnosis and treatment can reverse neurological symptoms.

## Contribution

Identification of a novel HMBS gene mutation and demonstration of reversible neuroimaging findings in acute intermittent porphyria.

## Key findings

- A novel c.499-1_514del mutation in the HMBS gene was confirmed through genetic testing.
- Neuroimaging changes in the patient were reversible with timely treatment including glucose and heme arginate.
- Symptoms resolved rapidly following treatment, highlighting the importance of early diagnosis in AIP.

## Abstract

Acute intermittent porphyria (AIP) is a rare metabolic disorder resulting from defects in the heme biosynthesis pathway, often presenting with non-specific symptoms such as abdominal pain, seizures, and neuropsychiatric disturbances. Diagnosis is challenging due to the overlap of symptoms with other conditions, and early recognition is critical for effective treatment.

A 24-year-old female presented with a 6-day history of persistent lower abdominal pain and generalized tonic-clonic seizures, following the consumption of seafood. Neuroimaging revealed white matter hyperintensities, and urine analysis showed dark red discoloration, suggestive of porphyria. Genetic testing confirmed a novel c.499-1_514del mutation in the HMBS gene, diagnosing AIP. The patient was treated with intravenous glucose, heme arginate, and anticonvulsants. Symptom resolution was noted within days, and follow-up MRI showed significant improvement.

This case underscores the importance of early diagnosis and management in AIP. Genetic testing plays a crucial role in confirming the diagnosis, especially in atypical cases. Timely intervention with glucose and heme arginate, combined with supportive care, led to rapid symptom resolution, reinforcing the reversibility of AIP-associated neuroimaging changes. Clinicians should maintain a high index of suspicion for AIP in patients with unexplained abdominal and neurological symptoms to prevent long-term complications.