Abstract
For the first time in Azerbaijan Republic, a patient with Niemann-Pick diagnosis has been studied by means of modern molecular-genetic method complex. Patient H.D. (2006), has been examined by doctor-pediatrician, doctor-neurologist and doctor-geneticist, and during consultation they considered him suspicious of lysosome storage disease. Acidic sphingomyelinase activity, value of biomarker lyso-SM-509were identified with liquid chromotography mass spectroscopy method. Gene analysis was carried out with NGS (next generation sequencing) method. Deficiency of acidic sphingomyelinase enzyme, value of biomarker lyso-SM-509 higher than norm was the evidence that patient had got Niemann-Pick metabolic disease. SMPD1 gene analysis identified substitution of Adenine nucleotide with Guanine nucleotide in the position c.1556 and showed homozygous state (c.1556A>G: p.Tyr519Cys). Alongside with Niemann-Pick A/B types the patient had got CYP21A2 gene homozygous, ALAS2 gene hemizygous inheritance types, ABCA1 and LPL genes showed heterozygous carriage. The patient’s parents being in their reproductive age we advised to undergo fetus prenatal diagnostics in the next pregnancy course.
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