Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates.

[phenylketonuria]

This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM ) among Emiratis .T he reported mutation spectrum included all patients who were diagnosed with IEM (excluding those with lysosomal storage diseases [LSD ]) at Tawam Hospital Metabolic Center in Abu Dhabi , United Arab Emirates , between January 1995 and May 2013 . Disease prevalence (per 100 ,000 live births ) was estimated from data available for 1995 -2011 .In 189 patients , 57 distinct IEM were diagnosed , of which 20 (35 %) entities were previously reported LSD (65 patients with 39 mutations ), with a birth prevalence of 26 .87 /100 ,000 . This study investigated the remaining 37 (65 %) patients with other IEM (124 patients with 62 mutations ). Mutation analysis was performed on 108 (87 %) of the 124 patients . Five patients with biotinidase deficiency had compound heterozygous mutations , and two siblings with lysinuric protein intolerance had two homozygous mutations . The remaining 103 (95 %) patients had homozygous mutations . As of this study , 29 (47 %) of the mutations have been reported only in Emiratis . Two mutations were found in three tribes (biotinidase deficiency [BTD , c .1330 G >C ] and phenylketonuria [PAH , c .168 +5 G >C ]). Two mutations were found in two tribes (isovaleric aciduria [IVD , c .1184 G >A ] and propionic aciduria [PCCB , c .990 dupT ]). The remaining 58 (94 %) mutations were each found in individual tribes . The prevalence was 48 .37 /100 ,000 . The most prevalent diseases (2 .2 -4 .9 /100 ,000 ) were biotinidase deficiency ; tyrosinemia type 1 ; phenylketonuria ; propionic aciduria ; glutaric aciduria type 1 ; glycogen storage disease type Ia , and mitochondrial deoxyribonucleic acid depletion .T he IEM birth prevalence (LSD and non-LSD ) was 75 .24 /100 ,000 . These results justify implementing prevention programmes that incorporate genetic counselling and screening .

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phenylketonuria

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