Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X

@article{Miyamoto2001DiagnosisOJ,
  title={Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X},
  author={Takeshi Miyamoto and Naomi Kanazawa and Shigeo Kato and M. Kawakami and Yoshito Inoue and Tomiko Kuhara and Takehiko Inoue and Kenzo Takeshita and Seiichi Tsujino},
  journal={Journal of Human Genetics},
  year={2001},
  volume={46},
  pages={260-262}
}
AbstractPatients with mitochondrial ornithine transporter deficiency (or HHH syndrome) present with various neurological symptoms, including mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia, and episodic disturbance of consciousness or coma due to hyperammonemia. We previously described three novel mutations in the ORNT1 gene in Japanese patients with HHH syndrome. In this article, we report a new patient with HHH syndrome, a 52-year-old woman, who had the typical… 
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Long-term follow-up of four patients affected by HHH syndrome.
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TLDR
Long-term follow-up showed that variable intellectual impairment and lower limb spasticity often occur, together or separately, with no obvious relationship to age at diagnosis and compliance with treatment, and the need to better understand the pathophysiology of HHH is emphasised.
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Eight unrelated Italian patients with the hyperornithinemia, hyperammonemia, and homocitrullinuria (HHH) syndrome were analyzed for mutations in the ORNT1 gene. Seven novel mutations were identified
Diagnosis and high incidence of hyperornithinemia-hyperammonemia-homocitrullinemia (HHH) syndrome in northern Saskatchewan
TLDR
It was determined that ornithine levels, by tandem mass spectrometry, were not abnormal in newborns with F188Δ mutation, carriers and normals, and that newborn screening for HHH Syndrome in this high risk population is only possible by detection of the mutant allele using DNA analysis.
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study
TLDR
Although patient metabolic alterations responded well to low‐protein therapy, predictions concerning the long‐term evolution of HHH syndrome remain uncertain and the preference for a hepatic rather than a neurological presentation at onset continues to elude us.
Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
TLDR
Lukoencephalopathy in HHH syndrome may be reversible with the resolution of hyperammonemia-induced glutamine toxicity, and the administration of L-arginine and lactulose with a decrease in plasma ammonia levels and glutamine-glutamate peak on magnetic resonance spectroscopy.
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References

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TLDR
This study confirms that defects in the ORNT1 gene cause the HHH syndrome and that the genetic basis in Japanese patients is heterogeneous, and reports three novel mutations in the mitochondrial ornithine transporter gene (ORNT1).
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