Ontology highlight
ABSTRACT:
SUBMITTER: Wild KT
PROVIDER: S-EPMC6323011 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Wild Katherine Taylor KT Ganetzky Rebecca D RD Yudkoff Marc M Ierardi-Curto Lynne L
JIMD reports 20180906
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome (OMIM 238970) is an autosomal recessive disorder that is caused by a deficiency of mitochondrial ornithine transporter 1, resulting in dysfunction of the urea cycle. HHH is the rarest of the urea cycle disorders, reported in fewer than 100 patients. It is characterized by extreme phenotypic variability, including diverse ages of onset and severity of phenotype. We report the first confirmed instance of HHH syndrome in a premature ...[more]