Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition

Neurol Sci. 2013 Sep;34(9):1699-701. doi: 10.1007/s10072-012-1266-8. Epub 2012 Dec 18.

Authors

Massimiliano Filosto¹, Antonella Alberici, Alessandra Tessa, Alessandro Padovani, Filippo M Santorelli

Affiliation

¹ Clinical Neurology, Section for Neuromuscular Diseases and Neuropathies, University Hospital "Spedali Civili", Pz.le Spedali Civili 1, 25100, Brescia, Italy, [email protected].

PMID: 23247599
DOI: 10.1007/s10072-012-1266-8

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Amino Acid Sequence
Amino Acid Transport Systems, Basic / chemistry
Amino Acid Transport Systems, Basic / genetics
Base Sequence
Humans
Hyperammonemia / diagnosis*
Hyperammonemia / genetics*
Hyperammonemia / physiopathology
Male
Mitochondrial Membrane Transport Proteins
Molecular Sequence Data
Mutation
Ornithine / deficiency*
Ornithine / genetics
Urea Cycle Disorders, Inborn / diagnosis*
Urea Cycle Disorders, Inborn / genetics*
Urea Cycle Disorders, Inborn / physiopathology

Substances

Amino Acid Transport Systems, Basic
Mitochondrial Membrane Transport Proteins
SLC25A15 protein, human
Ornithine

Supplementary concepts

HHH syndrome