Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases | ||||
| Middle East Journal of Medical Genetics | ||||
| Volume 8, Issue 2, July 2020 PDF (679.82 K) | ||||
| DOI: 10.4103/MXE.MXE_2_20 | ||||
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| Authors | ||||
| Ekram Fateen; Mohammed Akmal El Ghor; Marwa Bahaa El Deen Deen Dakroury | ||||
| Abstract | ||||
| Introduction Lysosomal acid lipase (LAL) deficiency is an autosomal recessive disease, causing two different disorders, Wolman disease (WD) and cholesteryl ester storage disease. WD is the severest type of LAL deficiency. It causes accumulation of lipids in body organs and calcium deposits in the adrenal glands. The phenotypes 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 an older age, leading to liver dysfunction. A recent method was established to measure the activity of LAL in a dried blood spot, using Lalistat 2 as an inhibitor. Aim The aim was to diagnose WD among a group of high-risk patients with organomegaly and establishing the dried blood spot technique at the Biochemical Genetics Laboratory, Center of Excellence for Human Genetics, National Research Centre. Patients and methods A total of 83 participants were recruited, comprising 30 controls and 53 patients with hepatosplenomegaly. Four different enzyme activities were measured (Chitotriosidase, B-glucosidase, sphingomyelinase, and LAL). Results Overall, 53 patients were diagnosed, comprising 17 patients with Gaucher disease, six patients with Niemann–Pick (NP) disease type A/B, one patient with WD, and 29 patients were suspected to be NP type C or other lysosomal diseases for further investigations. Conclusion Plasma chitotriosidase, peripheral leukocytic β-glucosidase, and acid sphingomyelinase enzyme | ||||
| Keywords | ||||
| Dried Blood Spot; Gaucher disease; Lalistat 2; lysosomal acid lipase; Niemann-Pick disease; Wolman disease | ||||
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