An autopsy case of ornithine transcarbamylase deficiency

Brain and Development

Volumn 24, Issue 2, 2002, Pages 91-94

  Yamanouchi, Hideo ^a,b   Yokoo, Hideaki ^b   Yuhara, Yukihiro ^c   Maruyama, Ken Ichi ^c   Sasaki, Atsushi ^b   Hirato, Junko ^b   Nakazato, Yoichi ^b  

^a DOKKYO MEDICAL UNIVERSITY   (Japan)

^b GUNMA UNIVERSITY   (Japan)

^c Gumna Children S Medical Center   (Japan)

Author keywords

Dentate nucleus; Grumose degeneration; Multicystic encephalopathy; Ornithine transcarbamylase deficiency

Indexed keywords

ORNITHINE CARBAMOYLTRANSFERASE;

ARTICLE; AUTOPSY; BRAIN CYST; BRAIN REGION; CASE REPORT; CAUSE OF DEATH; CELL INFILTRATION; CELL LOSS; CEREBELLUM; CLINICAL FEATURE; CONVULSION; DENTATE NUCLEUS; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; DISSEMINATED INTRAVASCULAR CLOTTING; ENZYME ACTIVITY; EXON; FRONTAL LOBE; GENE DELETION; HIPPOCAMPUS; HUMAN; HYPERAMMONEMIA; MACROGLIA; MACROPHAGE; MALE; NERVE DEGENERATION; NEUROPATHOLOGY; NEWBORN; NULL ALLELE; PARIETAL LOBE; PERINATAL PERIOD; SEPSIS; SIDEROSIS; THALAMUS;

AUTOPSY; CEREBELLAR NUCLEI; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; ORNITHINE CARBAMOYLTRANSFERASE DEFICIENCY DISEASE; SPINOCEREBELLAR DEGENERATIONS;

EID: 0036125033     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00408-9     Document Type: Article

References (11)

1. Ornithine transcarbamylase deficiency: Pathogenesis of the cerebral disorder and new prospects for therapy
2. Ornithine carbamoyl transferase deficiency: A neuropathological study
3. Neuropathology of ornithine carbamyl transferase deficiency
4. Severe cerebral damage in ornithine transcarbamylase deficiency
5. Four novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: Application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns
6. Regional amino acid neurotransmitter changes in brains of spf/Y mice with congenital ornithine transcarbamylase deficiency
7. Evidence of excitotoxicity in the brain of the ornithine carbamoyltransferase deficient sparse fur mouse
8. Quinolinic acid in children with congenital hyperammonemia
9. Quinolinic acid: An endogenous metabolite that produces axon-sparing lesions in rat brain
10. 'Grumose degeneration' of the dentate nucleus. A light and electron microscopic study in progressive supranuclear palsy and dentatorubropallidoluysial atrophy