Isovaleric acidaemia presenting with dwarfism, cataract and congenital abnormalities.
Isovaleric acidaemia was diagnosed in a 9-year-old girl with an unusual clinical presentation. She was severely mentally retarded, had an extreme growth retardation, bilateral cataracts, multiple fractures of the long bones, vitium cordis and malformations of the head. Frequent infections occurred since early childhood. The relevance of these findings is discussed.
D000015:Abnormalities, Multiple; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000175:diagnosis*; D002386:Cataract / Q000209:etiology*; D002648:Child; D004392:Dwarfism / Q000209:etiology*; D005260:Female; D005998:Glycine / Q000031:analogs & derivatives / Q000652:urine; D045782:Hemiterpenes; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology*; D010421:Pentanoic Acids / Q000097:blood*; D014631:Valerates / Q000097:blood*
D045782:Hemiterpenes; D010421:Pentanoic Acids; D014631:Valerates; C008216:isovaleric acid; C005916:N-isovalerylglycine; D005998:Glycine