Normal range of total plasma homocysteine concentrations in southern Iran

The distribution of total plasma homocysteine concentrations in relation to the sex and age is described, in a population of Shiraz, South West of Iran and compared to those reported in other populations. Two hundred and one healthy males and 201 healthy females aged >15 y were randomly selected. Total Plasma homocysteine concentrations were measured using high performance liquid chromatography. The mean plasma homocysteine level was significantly higher in men [geometric mean 7.3micro mol/L] than in women [geometric mean 6.3micrp mol/L, p<0.001]. The geometric mean levels for age ranges 15-25, 26-36, 37-47, 48-58, 59-69 and 70-80 years, were 5.9, 5.4, 5.2, 6.7, 7.3 and 7.6 micro mol/L in women and 7.5, 8.7, 5.9, 5.9, 7.2 and 9.1 micro mol/L in men respectively. The first data on homocysteine distribution in a representative sample from South West of Iran indicate that the ethnic differences have an important impact on homocysteine metabolism

Selective screening of phenylketonuria, tyrosinemia and maple syrup urine diease in southern Iran

Inborn errors of amino-acids metabolism and other inherited Mendelian disorders are common in the Middle East. The number of diagnosed inborn errors of amino acid metabolism is growing constantly on account of and availability and improved of analytical techniques. The aim of this work was to determine a rough estimate of the incidence rates of phenylketonuria [PKU], tyrosinemia, and maple syrup urine disease [MSUD] in Fars Province, South of Iran. Using a high performance liquid chromatography, 1044 patients with signs and symptoms suggestive of PKU, tyrosinemia and MSUD were investigated between 1996 and 2001, for the presence of the disorders. Of 1044 patients, 43 cases [4.1%] with PKU, 15 [1.4%] with tyrosinemia and 6 [0.6%] with MSUD were diagnosed. The incidence rates of PKU, tyrosinemia and MSUD were found to be 27.2, 9.4, and 4.7 per 100,000 births, respectively. The incidence rates of PKU, tyrosinemia and MSUD in our region is higher than the rates reported from Europe presumably because of the relatively higher rates of consanguinity