A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy

Kazuma Koda; Mariko Akaogi; Hiroaki Sekiya; Yoshihisa Otsuka; Yukihiro Yoneda; Atsuo Kikuchi; Shigeo Kure; Yasufumi Kageyama

doi:10.5692/CLINICALNEUROL.CN-001514

A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy

Kazuma Koda, Mariko Akaogi, Hiroaki Sekiya, Yoshihisa Otsuka, Yukihiro Yoneda, Atsuo Kikuchi, Shigeo Kure, Yasufumi Kageyama

MED - Medical Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

A 49-year-old woman with intellectual disability and a food preference for fried chicken entered a nursing home. After nursing home diet, she developed episodic attacks of hyperammonemic encephalopathy. Her characteristic food preference and the negative results for brain and liver imaging studies suggested urea cycle disorder. A high plasma citrulline level on amino acid analysis and a genetic test for citrine gene confirmed a citrine deficiency (adult-onset type II citrullinemia). Although a low-carbohydrate diet was insufficient, a combination therapy of a low-carbohydrate diet and a medium-chain triglyceride (MCT) oil was effective. MCT oil may be a promising treatment option.

Original language	English
Pages (from-to)	200-203
Number of pages	4
Journal	Clinical Neurology
Volume	61
Issue number	3
DOIs	https://doi.org/10.5692/CLINICALNEUROL.CN-001514
Publication status	Published - 2021

Keywords

Citrine deficiency
CTLN2
Intellectual disability
MCT oil
Medium-chain triglyceride

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10.5692/CLINICALNEUROL.CN-001514

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abstract = "A 49-year-old woman with intellectual disability and a food preference for fried chicken entered a nursing home. After nursing home diet, she developed episodic attacks of hyperammonemic encephalopathy. Her characteristic food preference and the negative results for brain and liver imaging studies suggested urea cycle disorder. A high plasma citrulline level on amino acid analysis and a genetic test for citrine gene confirmed a citrine deficiency (adult-onset type II citrullinemia). Although a low-carbohydrate diet was insufficient, a combination therapy of a low-carbohydrate diet and a medium-chain triglyceride (MCT) oil was effective. MCT oil may be a promising treatment option.",

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T1 - A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy

AU - Koda, Kazuma

AU - Akaogi, Mariko

AU - Sekiya, Hiroaki

AU - Otsuka, Yoshihisa

AU - Yoneda, Yukihiro

AU - Kikuchi, Atsuo

AU - Kure, Shigeo

AU - Kageyama, Yasufumi

PY - 2021

Y1 - 2021

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AB - A 49-year-old woman with intellectual disability and a food preference for fried chicken entered a nursing home. After nursing home diet, she developed episodic attacks of hyperammonemic encephalopathy. Her characteristic food preference and the negative results for brain and liver imaging studies suggested urea cycle disorder. A high plasma citrulline level on amino acid analysis and a genetic test for citrine gene confirmed a citrine deficiency (adult-onset type II citrullinemia). Although a low-carbohydrate diet was insufficient, a combination therapy of a low-carbohydrate diet and a medium-chain triglyceride (MCT) oil was effective. MCT oil may be a promising treatment option.

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KW - CTLN2

KW - Intellectual disability

KW - MCT oil

KW - Medium-chain triglyceride

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A case of adult-onset type II citrullinemia triggered by entering a nursing home with a good response to medium-chain triglyceride oil therapy

Abstract

Keywords

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