الفهرس 
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Abstract
Lysosmal storage disorders (LSDs) represent a group of heterogenous
diseases, each of which is caused by deficient enzyme activity in a
metabolic pathway. There is an increasing number of LSDs; more than 50
diseases have been described to date. LSDs are individually rare, but they
are collectively common, with an overall incidence ranging from up to
1:7000 to 1:8000 newborn .
Our cross sectional study was conducted on 52 patients (mean age:
48.2 ±38.7 months) that include 34 males and 18 females from October,
2019 to September 2020, in pediatric department at Sohag university
hospital.
The study included some children (aged from two months to 12
years) followed up in pediatric department with 13 different types of LSDs.
All patients were subjected to full history taking ,full clinical
examination with special concern on anthropometric measurements,
neurological manifestations and signs of LSDs such as global
developmental delay, large sized head, course facial features, hypotonia,
and hepatosplenomegaly and investigations including, brain CT, brain
MRI, GAGs in urine, enzymatic assay, and genetic analysis.
from our study, we found that, MPS was the most common LSDs
accounted for 22 (42.3 %) of studied cases, followed by shingolipidosis
accounted for 17 (32.7 %) of studied cases, then glycogen storage diseases
accounted for 11 (21.1 %) of studied children. And as regard type of
storage disease ,the most common single disease was GD type I accounted
for 10 (19.2%) of studied cases, then MPS type III ( Sanfilipo syndrome )
accounted for 7 (13.5%) of the studied cases, and NP type A/B accounted
for 5 (9.6%) of the studied children.
In the present study, GAGs in urine done for 22 (42.3%) of the
studied cases, 15 children (68.2%) diagnosed as MPS, and 7 children
(31.8%) diagnosed as MPS type III ( Sanfilipo syndrome ).
In the present study, enzyme assay done for 20 (38.5%) of the
studied cases, 10 patient (50%) diagnosed as GD type I, 5 patients (25%)
diagnosed as NP type A/B, 3 patients (15%) diagnosed as MPS type III,
one patient diagnosed as MPS type I, and one patient dignosed as GSD
type II (pompe disease). Gene analysis also done for 13 (25%) of the
studied children, 8 patients(61.5%) diagnosed as GD type I, 4 patients
(30.8%) diagnosed as MPS type III, and one patient diagnosed as MPS type
VI.
In this study, 12 children (23.1%) recived ERT, among these 12
children, 10 children had GD type I and 2 children had MPS type I.
Recommendation:
In conclusion, as a group, LSDs can be considered as a very frequent
inborn error of metabolism in the Egyptians. We need establishing more
diagnostic facilities with proper geographical distribution within Egypt,
upgrading genetic capabilities, raising awareness among health care
providers and building better registration and referral systems for
lysosomal storage disorders.