A basic investigation for inherited metabolic diseases: indication for genomic approach

The inherited metabolic diseases (IMDs) or Inborn errors of metabolism (IEM) are mostly determined by single abnormal autosomal recessive genes; which though rare as a group account for a sizeable proportion of disorders in very large populations. There is neither a screening policy as in many advanced countries nor have the diseases been investigated in the concomitant institution for the handicapped in Nigeria. Sixty-one (61) subjects (40M, 20F); Mean age 18.38 + 1.3 (SD) years who were residents of the Oluyole Cheshire School and the School for the Handicapped both in the Eleyele area of Ibadan, were selected for the study. Thirty-five (35) apparently healthy (no manifest genetic disorder) individuals, mean age 19.00 + 1.30 (SD) years were selected as controls. The mean weight of the handicapped was 40.9 + 1.1kg while the controls was 47.63 + 1.17 (SD) kg. Mid morning urine samples were collected from all subjects and controls. Aversion for venepuncture by both subjects and their care providers prevented some blood assays. All subjects were subjected to Benedicts reaction, the Ferric Chloride (FeC13) test, clinstix, and the ninhydrin reactions. Thirty-two (32) out of a population of 45 (71.1%) at the Oluyole Chesire Home and 29 out of a population 42 (69.1%) at the School for the handicapped participated in the study. The handicapped subjects had significantly lower weight than controls (