OBJECTIVES: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. METHODS: The 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. RESULTS: 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.1330G>C] and phenylketonuria [PAH, c.168+5G>C]). Two mutations were found in two tribes (isovaleric aciduria [IVD, c.1184G>A] and propionic aciduria [PCCB, c.990dupT]). 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. CONCLUSION: The IEM birth prevalence (LSD and non-LSD) was 75.24/100,000. These results justify implementing prevention programmes that incorporate genetic counselling and screening.
OBJECTIVES: This study aimed to determine the mutation spectrum and prevalence of inborn errors of metabolism (IEM) among Emiratis. METHODS: The 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. RESULTS: 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.1330G>C] and phenylketonuria [PAH, c.168+5G>C]). Two mutations were found in two tribes (isovaleric aciduria [IVD, c.1184G>A] and propionic aciduria [PCCB, c.990dupT]). 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. CONCLUSION: The IEM birth prevalence (LSD and non-LSD) was 75.24/100,000. These results justify implementing prevention programmes that incorporate genetic counselling and screening.
Entities:
Keywords:
Founder Effect; Metabolism, Inborn Errors; Mutations; Prevalence; United Arab Emirates
Authors: Bassam R Ali; Jozef L Hertecant; Fatima A Al-Jasmi; Mohamed A Hamdan; Sawsan F Khuri; Nadia A Akawi; Lihadh I Al-Gazali Journal: Saudi Med J Date: 2011-04 Impact factor: 1.484
Authors: B J Poorthuis; R A Wevers; W J Kleijer; J E Groener; J G de Jong; S van Weely; K E Niezen-Koning; O P van Diggelen Journal: Hum Genet Date: 1999 Jul-Aug Impact factor: 4.132
Authors: Rui Pinto; Carla Caseiro; Manuela Lemos; Lurdes Lopes; Augusta Fontes; Helena Ribeiro; Eugénia Pinto; Elisabete Silva; Sónia Rocha; Ana Marcão; Isaura Ribeiro; Lúcia Lacerda; Gil Ribeiro; Olga Amaral; M C Sá Miranda Journal: Eur J Hum Genet Date: 2004-02 Impact factor: 4.246
Authors: Jozef L Hertecant; Imen Ben-Rebeh; Muhaned A Marah; Thikra Abbas; Leila Ayadi; Salma Ben Salem; Fatma A Al-Jasmi; Lihadh Al-Gazali; Said A Al-Yahyaee; Bassam R Ali Journal: Eur J Med Genet Date: 2012-08-16 Impact factor: 2.708
Authors: Francesca Angileri; Anne Bergeron; Geneviève Morrow; Francine Lettre; George Gray; Tim Hutchin; Sarah Ball; Robert M Tanguay Journal: JIMD Rep Date: 2015-02-15
Authors: Lolowa A Al Mekaini; Srdjan Denic; Omar N Al Jabri; Hassib Narchi; Abdul-Kader Souid; Suleiman Al-Hammadi Journal: Am J Blood Res Date: 2015-12-25
Authors: Fatma A Aljasmi; Ranjit Vijayan; Naganeeswaran Sudalaimuthuasari; Abdul-Kader Souid; Noushad Karuvantevida; Raja Almaskari; Hidaya Mohammed Abdul Kader; Biduth Kundu; Khaled Michel Hazzouri; Khaled M A Amiri Journal: Genes (Basel) Date: 2020-08-01 Impact factor: 4.096