OBJECTIVE: Young adults with newly diagnosed apparent @entity164 2 @entity6 present the clinician with a wide differential diagnosis of possible etiology, including autoimmune and genetic causes as well as young-onset @entity164 2 @entity6 (YT2D). The characteristics of these groups have been described, but it is not known in which subjects investigation for etiology may be beneficial. RESEARCH DESIGN AND METHODS: A total of 268 unselected U.K. Caucasian subjects diagnosed at ages 18-45 years and not treated with permanent insulin for < or =6 months were studied. All subjects underwent clinical assessment and screening for GAD antibodies (GADA) and @entity669 phosphatase @entity9217 antibodies (IA-2A). Screening for a common mutation in the hepatocyte nuclear factor-1 alpha ( @entity5448 ) gene and the common mitochondrial mutation was performed in the antibody-negative subjects. Subjects without insulin resistance were selected for sequencing of the @entity5448 gene. RESULTS: A specific etiology was defined in 11.6% of the 268 subjects and in 24.7% of the lean subjects. Twenty-six subjects (9.7%) were positive for a beta-cell antibody, one subject had familial partial @entity6562 and the lamin @entity6407 mutation @entity66652 , and two subjects had the mitochondrial mutation @entity23355 . Two of 15 selected subjects had @entity5448 mutations, the novel missense mutation @entity69147 , and the previously reported @entity52052 . CONCLUSIONS: This unselected series shows that there is considerable heterogeneity in apparent YT2D. beta-Cell autoantibodies should be performed in all those presenting at ages 18-45 years. Genetic investigations can be targeted to phenotypically defined subjects. The finding of a specific etiology will allow individualization of management and give @entity1 valuable information about their condition.

Etiological investigation of @entity6 in young adults presenting with apparent XXXX 2 @entity6 .

@entity1 :: ('9606', 'Species') :: ['patients'] @entity6562 :: ('MESH:D008060', 'Disease') :: ['lipodystrophy'] @entity52052 :: ('p|SUB|R|583|Q', 'ProteinMutation') :: ['R583Q'] @entity6 :: ('MESH:D003920', 'Disease') :: ['diabetes'] @entity164 :: ('MESH:D017827', 'Disease') :: ['type'] @entity6407 :: ('c|SUB|A||C', 'DNAMutation') :: ['A/C'] @entity5448 :: ('6927', 'Gene') :: ['HNF-1 alpha'] @entity9217 :: ('5798', 'Gene') :: ['IA-2'] @entity66652 :: ('p|SUB|R|482|W', 'ProteinMutation') :: ['R482W'] @entity23355 :: ('c|SUB|A|3243|G', 'DNAMutation') :: ['A3243G'] @entity669 :: ('CHEBI:18186', 'Chemical') :: ['tyrosine'] @entity69147 :: ('c|SUB|A|501|T', 'DNAMutation') :: ['A501T']
@entity164 :: (MESH:D017827,Disease) :: ['type']
