000			02871cam a2200349 a 4500
003			EG-GiCUC
005			20250223031852.0
008			171205s2017 ua dh f m 000 0 eng d
040			_aEG-GiCUC _beng _cEG-GiCUC
041	0		_aeng
049			_aDeposite
097			_aPh.D
099			_aCai01.11.28.Ph.D.2017.Am.B
100	0		_aAmera Elsayed Elbadawy Ibrahim
245	1	0	_aBiotinidase deficiency : _bClinical, biochemical and molecular study of high risk Egyptian pediatric patients / _cAmera Elsayed Elbadawy Ibrahim ; Supervised Laila Abdelmoteleb Selim , Sawsan Abdelhady Hasan , Amina Abdelsalam Mahmoud
246	1	5	_aدراسة إكلينيكية: كيميائية و وراثية لمرض نقص إنزيم البيوتينيديز فى الأطفال المصريين الأكثر عرضة للإصابة به
260			_aCairo : _bAmera Elsayed Elbadawy Ibrahim , _c2017
300			_a198 P. : _bcharts , facsimiles ; _c25cm
502			_aThesis (Ph.D.) - Cairo University - Faculty of Medicine - Department of Pediatrics
520			_aIf untreated, children with biotinidase deficiency usually exhibit seizures, hypotonia, ataxia, global developmental delay, vision problems, hearing loss and cutaneous abnormalities (alopecia, skin rash, and candidiasis). The deficiency of the enzyme may be profound ({u02C2}10%) or partial (10-30%), all symptomatic children improve when treated with 5-10mg of oral biotin/day while those identified by newborn screening should remain asymptomatic if the treatment is instituted early and continuously lifelong. In this study, the frequency, clinical profile and molecular infrastructure of biotinidase deficiency among high risk children were depicted. Methods: Serum biotinidase is determined by colorimetric technique followed by sequencing of BTD gene in deficient patients. Results: Being an autosomal recessive neurocutaneous disease, biotinidase deficiency is frequent (11%) among our studied group owing to high degree of consanguinity; the more severe phenotype due to profound deficiency is more common than the less severe partial one. Most of our studied patients (88.8%) exhibited homozygous private novel mutations in exon 4. Conclusion: High index of suspicion should be maintained to identify patients with biotinidase deficiency early to institute biotin therapy and prevent disabling neurological sequalae, till a nationwide newborn screening program is implemented
530			_aIssued also as CD
653		4	_aBiotinidase deficiency
653		4	_aColorimetric assay
653		4	_aMutations
700	0		_aAmina Abdelsalam Mahmoud , _eSupervisor
700	0		_aLaila Abdelmoteleb Selim , _eSupervisor
700	0		_aSawsan Abdelhady Hasan , _eSupervisor
856			_uhttp://172.23.153.220/th.pdf
905			_aNazla _eRevisor
905			_aSamia _eCataloger
942			_2ddc _cTH
999			_c63874 _d63874