Preferred Label : Hyperleucine-isoleucinemia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : There are 2 branched-chain amino acid transferases, BCT1 (113520) and BCT2 (113530).
There is evidence, furthermore, that the transamination of valine may be separate
from the transamination of leucine and isoleucine (see 277100). The only description
of a leucine-isoleucine abnormality was provided by Jeune et al. (1970) in a French
family. A brother and sister presented at ages 2 to 3 months with seizures, failure
to thrive, and mental retardation. The girl had retinal degeneration and sensorineural
hearing loss as well. Blood analysis showed elevated concentrations of leucine, isoleucine,
and proline with normal levels of valine. Aminotransferase activity in the leukocytes
of these 2 patients showed decreased transfer from leucine and isoleucine but normal
activity with valine. Treatment with diets low in leucine and isoleucine did not improve
the clinical phenotype and the boy died in his third year. *FIELD* RF 1. Jeune, M.;
Collombel, C.; Michel, M.; David, M.; Guibaud, P.; Guerrier, G.; Albert, J.: Hyperleucinisoleucinemie
par defaut partiel de transamination associee a une hyperprolinemie de type 2: observation
familiale d'une double aminoacidopathie. Ann. Pediat. 17: 85-99, 1970. *FIELD* CS
Growth: Failure to thrive Neuro: Seizures; Mental retardation;
Inheritance : Autosomal recessive;
Prefixed ID : 238340;
Origin ID : 238340;
UMLS CUI : C0268574;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
