Detection of metabolic disorders among selectively screened people with idiopathic mental retardation.
Fifth-eight people receiving residential or other services for idiopathic mental retardation were evaluated for evidence of metabolic disease. Five (8%) demonstrated persistent urinary organic acid abnormalities on at least three occasions, which pointed towards specific genetic metabolic defects. Instigation of specific treatment programs may have improved the quality of life for one of these participants. Appropriate genetic counseling was provided but could have been instigated much earlier had these investigations been performed as part of a routine workup for idiopathic mental retardation. This pilot study suggests a need for evaluation of other similar populations with idiopathic mental retardation.
Kurtz
M B
MB
Genetic Services, Elwyn, Inc., PA 19063.
Finucane
B
B
Hyland
K
K
Bottiglieri
T
T
Sherwood
W G
WG
Bennett
M J
MJ
D000293:Adolescent; D000328:Adult; D000368:Aged; D000596:Amino Acids / Q000097:blood / Q000378:metabolism / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002853:Chromatography, Liquid; D004579:Electron Transport; D044943:Fatty Acid Desaturases / Q000378:metabolism; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008659:Metabolic Diseases / Q000150:complications* / Q000175:diagnosis* / Q000378:metabolism; D008875:Middle Aged
D000596:Amino Acids; D044943:Fatty Acid Desaturases