We are reporting here 1 cases of transient tyrosinuria who were in the age group of 5 month.
Out of these 29 positive cases, 17 were generalized aminoacidurias, 1 were branched chain aminoaciduria, and two cases of methylmalonic aciduria, and one cases each of tyrosinuria and phenylketonuria.
These 13 children included nine with positive screening test results for congenital hypothyroidism, two with classic galactosemia (galactose-1-phosphate uridyl transferase deficiency), one with maple syrup urine disease (MSUD), and one with tyrosinuria. In the judgement of study physicians, two of the 13 children (one with galactosemia and one with MSUD) appeared to have developmental disabilities, specifically MR, that could be attributed to a metabolic disorder.
For the child reported with tyrosinuria, no confirmatory information was available in the MADDSP records, and no additional information about this child was located by searching records of the genetics programs in the area.
