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175191

Enzyme based diagnosis of type 1 and 2 neuronal ceroid lipofuscinoses

Article

Last updated: 04 Jan 2025

Subjects

-

Tags

Biochemistry

Abstract

The study aimed to diagnose type 1 and 2 of neuronal ceroid lipofuscinoses (NCLs) using leukocytes and dried blood spot samples. A hundred subjects divided equally to patient and control groups of matching age and sex were included. The patient group was subclassified into two subgroups according to age. Measurement of palmitoyl protein thioesterase1 (PPT1) and tripeptidyl peptidase1 (TPP1) enzymes were conducted in both leukocytes and dried blood spot samples. Chitotriosidase enzyme activity was measured in plasma samples and was found to be normal in 10 cases and increased in 2 cases. Based on PPT1 and TPP1 enzymes activity, 12 cases were diagnosed from the 50 investigated patients and distributed equally between the 2 types. In cases with NCL 1, the Mean ± SD PPT1enzyme activity was decreased to 0.02 ± 0.0074 nmol/h/mg protein in leukocytes samples when compared to 3.4 ± 2.5 nmol/h /mg protein in controls while the activity was decreased to 0.063±0.09 nmol/spot in dried blood spot samples when compared to 0.88±0.32 nmol/spot in controls. In cases, with NCL2 the Mean ± SD TPP1 enzyme activity was decreased to 0.023±0.014 nmol/h/mg protein in leukocytes when compared to 0.92±0.84 nmol/h /mg protein in controls. While the activity was decreased to 0.04±0.035 nmol/spot in dried blood spot samples when compared to 0.394±0.17 nmol/spot in controls. The study concluded that dried blood spot sample method is satisfactory for confirming or excluding suspected patients while leukocyte samples are needed to confirm the positive or unclear results.

DOI

10.21608/aijpms.2021.60825.1044

Keywords

Neuronal Ceroid Lipofuscinoses, Chitotriosidase, Palmitoyl Protein Thioesterase1, Tripeptidyl Peptidase1, Leukocytes, Dried Blood Spot

Authors

First Name

Amira

Last Name

Radwan

MiddleName

-

Affiliation

Department of Biochemical Genetics, Human Genetics and Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Giza, Egypt

Email

radwanamira20@yahoo.com

City

-

Orcid

-

First Name

Ekram

Last Name

Fateen

MiddleName

-

Affiliation

Department of Biochemical Genetics, Human Genetics and Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Giza, Egypt

Email

efateen@yahoo.com

City

-

Orcid

-

First Name

Amr

Last Name

Gouda

MiddleName

-

Affiliation

Department of Biochemical Genetics, Human Genetics and Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Giza, Egypt

Email

amr_gouda3@yahoo.com

City

-

Orcid

-

First Name

Maha

Last Name

Zaki

MiddleName

-

Affiliation

Clinical Genetics Department, Human Genetics and Genome Research Division, Center of Excellence of Human Genetics, National Research Centre, Giza, Egypt

Email

dr_mahazaki@yahoo.com

City

-

Orcid

-

First Name

Ola

Last Name

Ali

MiddleName

-

Affiliation

Department of Biochemistry, Faculty of Pharmacy (Girls), Al-Azhar University, Cairo, Egypt

Email

prof_ola@hotmail.com

City

Cairo

Orcid

-

Volume

1

Article Issue

2

Related Issue

25720

Issue Date

2021-06-01

Receive Date

2021-01-31

Publish Date

2021-06-01

Page Start

40

Page End

48

Print ISSN

2735-4598

Online ISSN

2735-4601

Link

https://aijpms.journals.ekb.eg/article_175191.html

Detail API

https://aijpms.journals.ekb.eg/service?article_code=175191

Order

5

Type

Original research articles

Type Code

1,562

Publication Type

Journal

Publication Title

Azhar International Journal of Pharmaceutical and Medical Sciences

Publication Link

https://aijpms.journals.ekb.eg/

MainTitle

Enzyme based diagnosis of type 1 and 2 neuronal ceroid lipofuscinoses

Details

Type

Article

Created At

23 Jan 2023