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Article

[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].

Nihon rinsho. Japanese journal of clinical medicine - 1 Nov 2001

Tsujino S, Miyamoto T, Kanazawa N

Abstract excerpt

Mitochondrial ornithine transporter deficiency has been called HHH syndrome, because this disorder is characterized by three biochemical abnormalities; hyperornithinemia, hyperammonemia, and homocitrullinuria, and presents with various neurological symptoms; mental retardation, spastic paraparesis with pyramidal signs, cerebellar ataxia and episodic disturbance of consciousness or coma due to hyperammonemia. We...

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Source

Identifiers

PMID: 11712419

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].PMID 11712419Read ↗

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