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

Journal of Human Genetics

Volumn 46, Issue 5, 2001, Pages 260-262

  Miyamoto, T ^a   Kanazawa, N ^a,b   Kato, S ^c   Kawakami, M ^d   Inoue, Y ^e   Kuhara, T ^e   Inoue, T ^f   Takeshita, K ^g   Tsujino, S ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b KITASATO UNIVERSITY   (Japan)

^c Shinfuji Hospital   (Japan)

^d ST MARIANNA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e KANAZAWA MEDICAL UNIVERSITY   (Japan)

^f Department of Pediatrics   (Japan)

^g TOTTORI UNIVERSITY   (Japan)

Author keywords

HHH syndrome; Mitochondria; Mutation; Ornithine transporter; ORNT1

Indexed keywords

AMMONIA; HOMOCITRULLINE; ORNITHINE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CEREBELLAR ATAXIA; CHILD; COMA; CONSCIOUSNESS DISORDER; EXON; FEMALE; GENE MUTATION; HHH SYNDROME; HUMAN; HYPERAMMONEMIA; HYPERORNITHINEMIA; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; NONSENSE MUTATION; SPASTIC PARAPLEGIA;

AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID TRANSPORT SYSTEMS, BASIC; CARRIER PROTEINS; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; HOMOZYGOTE; HUMANS; JAPAN; MALE; MEMBRANE TRANSPORT PROTEINS; MIDDLE AGED; MITOCHONDRIA; ORNITHINE; POINT MUTATION; SYNDROME;

ATAXIA; POMACANTHUS MACULOSUS;

EID: 0035048227     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380170075     Document Type: Article

References (6)

1. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
2. Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
3. Hyperornithinemia, hyperammonemia, and homocitrullinuria: A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation
4. Genotype and phenotype findings in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
5. Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome
6. The hyperornithinemia