---
title: Can a rare inherited condition cause psychotic episodes that come back with each period?
description: In this one woman, yes. A rare condition that stops the body breaking down ammonia properly caused repeated psychotic episodes around her periods, and it had
url: https://niyora.com/research/papers/a-case-of-late-onset-carbamoyl-phosphate-synthetase-i-deficiency-presenting-2001/
---

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- Can a rare inherited condition cause psychotic episodes that come back with each period?

Case report, 2001

# Can a rare inherited condition cause psychotic episodes that come back with each period?

In this one woman, yes. A rare condition that stops the body breaking down ammonia properly caused repeated psychotic episodes around her periods, and it had been wrongly called PMS for years before a crisis revealed the true cause.

 Early or limited evidence

One 18-year-old woman in Japan with a rare inherited disorder, previously diagnosed as premenstrual syndrome.

## What they did

This is a report on a single patient, an 18-year-old girl in Japan who was admitted to hospital in a deep coma. Doctors looked back at her history and tested her blood, a liver sample, and her genes to find out what was wrong.

## What they found

From age 13 she had repeated episodes of excitement, aggression, poor sleep, nausea and vomiting, mostly timed with her periods, previously diagnosed as hysteria and premenstrual syndrome. On admission her blood ammonia was 684 micrograms/dl and her blood urea nitrogen had dropped to 6 mg/dl. Treatment brought ammonia down to 300 within 10 hours, but brain swelling then shrinkage followed. She regained consciousness about a month later but had severe mental impairment. A liver biopsy showed very low activity of the enzyme involved, confirming carbamoyl phosphate synthetase I deficiency, from a gene change inherited from her father.

## What it means for you

Symptoms that seem to follow the menstrual cycle, including severe mood and behaviour changes, are not always PMS or PMDD and can sometimes come from a different underlying illness that needs its own treatment. This comes from a single patient, so it cannot tell us how common this is or apply to anyone else.

684

Blood ammonia level on admission (micrograms/dl)

300

Blood ammonia after treatment, within 10 hours (micrograms/dl)

6

Blood urea nitrogen level (mg/dl)

## About the study

Original title [A case of late-onset carbamoyl phosphate synthetase I deficiency, presenting periodic psychotic episodes coinciding with menstrual periods] Authors Wakutani Y, Nakayasu H, Takeshima T et al. Journal Rinsho shinkeigaku = Clinical neurology Year 2001 Study design Case report What was tested No treatment was being tested; this describes one patient's diagnosis and the emergency care she received. Read the paper [https://pubmed.ncbi.nlm.nih.gov/12080609/](https://pubmed.ncbi.nlm.nih.gov/12080609/)

## Topics

[Premenstrual syndrome (PMS)](https://niyora.com/research/topics/condition-pms/)[Schizophrenia and psychosis](https://niyora.com/research/topics/comorbidity-psychosis/)

Research tells you what helps on average. Niyora helps on the day it hits.

Calm down, see it another way, and decide what to say, with a PMS and PMDD app built by a doctor.

## Related studies

Review, 2024

What is premenstrual exacerbation and how does it affect different psychiatric illnesses?

Cohort study, 2023

Are PMS symptoms linked to genetic factors for psychiatric disorders?

Systematic review, 2022

Do mental health disorders get worse during the menstrual cycle?

Review, 2002

What treatments work best for PMS and PMDD?

Review, 1989

Are mental health conditions linked to the reproductive cycle?

Study, 2026

Do anxiety and depression get worse before your period if you already have a mental health condition?

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