KEGG   DISEASE: Hyperornithinemia-hyperammonemia-homocitrullinuria syndromeHelp
Entry
H01268                      Disease                                

Name
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome;
HHH syndrome
  Supergrp
Primary hyperammonemic disorders (Urea cycle disorders) [DS:H01398]
Description
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive disorder, characterized by mental retardation, progressive spastic paraparesis, seizures, and myoclonus epilepsy. This disease varies widely in its severity and age of onset. The HHH syndrome is thought to be caused by the defective activities of the mitochondrial carrier responsible for transporting ornithine from the cytoplasm into the inner mitochondrial membrane. Mutations in the SLC25A15 gene, that encodes the mitochondrial ornithine transporter have been shown to be correlated with the HHH syndrome.
Category
Inherited metabolic disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01268  Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C50  Inborn errors of amino acid or other organic acid metabolism
     H01268  Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
BRITE hierarchy
Gene
SLC25A15 [HSA:10166] [KO:K15101]
Other DBs
ICD-11: 5C50.AY
ICD-10: E72.4
MeSH: C538380
OMIM: 238970
Reference
  Authors
Wang JF, Chou KC
  Title
Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
  Journal
PLoS One 7:e31048 (2012)
DOI:10.1371/journal.pone.0031048
Reference
  Authors
Camacho J, Rioseco-Camacho N
  Title
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
  Journal
GeneReviews (1993)

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