A case of hyperinsulinism/hyperammonaemia syndrome: usefulness of the oral protein tolerance for the evaluation of treatment

Eur J Pediatr. 2005 Mar;164(3):182-3. doi: 10.1007/s00431-004-1592-9. Epub 2004 Dec 3.

Authors

Yoshitaka Toriumi¹, Kohji Murata, Takeshi Taketani, Atsushi Uchiyama, Takaharu Ohie, Seiji Yamaguchi

Affiliation

¹ Department of Paediatrics, Shimane University School of Medicine, Izumo, Japan. toriumi@r3.dion.ne.jp

PMID: 15580356
DOI: 10.1007/s00431-004-1592-9

No abstract available

Publication types

Case Reports

MeSH terms

Child
Exons
Female
Glutamate Dehydrogenase / genetics
Humans
Hyperammonemia / diagnosis*
Hyperammonemia / genetics
Hyperinsulinism / diagnosis*
Hyperinsulinism / genetics
Hypoglycemia
Leucine*
Mutation
Syndrome

Substances

Glutamate Dehydrogenase
Leucine