000			03161cam a2200337 a 4500
003			EG-GiCUC
005			20250223032657.0
008			210123s2020 ua dh f m 000 0 eng d
040			_aEG-GiCUC _beng _cEG-GiCUC
041	0		_aeng
049			_aDeposite
097			_aM.Sc
099			_aCai01.12.21.M.Sc.2020.Ma.B
100	0		_aMarwa Bahaa Eldeen Abdellatif Dakroury
245	1	0	_aBiochemical diagnosis of wolman disease among clinically suspected patients / _cMarwa Bahaa Eldeen Abdellatif Dakroury ; Supervised Mohammad Akmal Abdelrheem Elghor , Ekram Maher Fateen
246	1	5	_aالتشخيص البيوكيمائى لمرض ولمان فى المرضى المشتبه بهم اكلينيكيا
260			_aCairo : _bMarwa Bahaa Eldeen Abdellatif Dakroury , _c2020
300			_a88 P. : _bcharts , facsimiles ; _c25cm
502			_aThesis (M.Sc.) - Cairo University - Faculty of Science - Department of Zoology
520			_aBackground: Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disease, causing two different disorders, Wolman disease (WD) and Cholesteryl Ester Storage disease (CESD). WD is the severest type of lysosomal acid lipase deficiency. It causes accumulation of lipids in body organs and calcium deposits in the adrenal glands. The phenotype in infants include hepatosplenomegaly, failure to thrive, jaundice, vomiting, diarrhea, developmental delay, and anemia. It is life threatening in early childhood; however the late form appears after puberty and in some cases at older ages, leading to liver dysfunction. A recent method was established to measure the activity of the enzyme in a dried blood spot, using Lalistat 2 as an inhibitor.The aim was to diagnose Wolman disease among a group of high risk patients with organomegaly and establishing the dried blood spot technique. Subjects and methods: Eighty five subjects were recruited, 30 normal controls, 55 patients with severe hepatic congenital disorders. Four different enzyme activities were measured (Chitotriosidase, Bglucosidase, Sphingomylinase and Lysosomal acid lipase). Results: 55 patients were diagnosed : 17 Gaucher patients, 6 NiemannPick A/B patients, 3 Wolman patients and 29 patients were suspected to be other lysosomal storage disorder or NiemannPick C (NPC) patients for further investigations Conclusion: ؛lasma chitotriosidase, peripheral leukocytic Ý-glucosidase and acid sphingomyelinase enzyme activity should be measured to all patients with clinical suspicion of WD, in order to exclude Gaucher disease (GD) and NiemannPick disease (NPD) as they share some symptoms on the early onset of the disease, and are of a higher risk to take place than Wolman. Screening for acid lipase enzyme activity is an accurate technique for the diagnosis of WD
530			_aIssued also as CD
653		4	_aDried blood spot
653		4	_aLysosomal acid lipase
653		4	_aWolman disease
700	0		_aEkram Maher Fateen , _eSupervisor
700	0		_aMohammad Akmal Abdelrheem Elghor , _eSupervisor
856			_uhttp://172.23.153.220/th.pdf
905			_aNazla _eRevisor
905			_aShimaa _eCataloger
942			_2ddc _cTH
999			_c79651 _d79651