β-Galactosidase Deficiency in Colombia

Uribe, Alfredo; Ayala, Adis; España, Monica; Arevalo, Isidro; Pacheco, Natalia; Garcia, Lina M. Jay

doi:10.1177/2326409815586252

Cited by 5 publications

(3 citation statements)

References 23 publications

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“…[29,30] To discard experimental error as a cause of the elevated values, we assessed the quality of these samples according to the activity obtained for the control enzyme, β-Galactosidase. We found that all data was within the range of reference (80.1 to 557 nmol/mL/h) established by Uribe et al [31] in a previous report on this enzyme in Colombia, so this possibility was discarded.…”

Section: Resultsmentioning

confidence: 59%

Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia

Ramirez‐Borda

Ardila

2021

J. inborn errors metab. screen.

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Sanfilippo B is a lysosomal disorder characterized by the pathological accumulation of heparan sulfate. It is caused by mutations in the NAGLU gene that codes for the alpha-N-acetylglucosaminidase enzyme. The objective of this study was to determine the reference values and frequency of Sanfilippo B in Colombia through an enzyme analysis of leukocytes extracts. We aim to inform the community and the health system so that they can work in a preventive way, providing an early diagnosis of patients and thus providing an appropriate management of the symptoms. We carried out an endpoint assay that indirectly quantifies NAGLU activity through the cleavage of 4-methylumbelliferone from the 4-methylumbelliferyl-2-acetamido-2-deoxy-α-D-glucopyranoside substrate. The activity of 463 healthy volunteers (Range: 0.6 -4 nmol/mg/h , Median: 1.69 +/-0.73 ) as well as 462 patients referred for clinical suspicion, was calculated. From the last group, 7 cases turned out to be positive (Range: 0 -0.24 nmol/mg/h , Median: 0.13 +/-0.09 ). The cut-off point according to ROC analysis between affected patients and controls was 0.42 nmol/mg/h. To our knowledge, this study is the first in Colombia where an estimated frequency of Sanfilippo type B is calculated by providing enzyme activity ranges and a cut-off point.

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Section: Resultsmentioning

confidence: 59%

Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia

Ramirez‐Borda

Ardila

2021

J. inborn errors metab. screen.

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“…b-Galactosidase (bgal) is an important glycohydrolase and biomarker involved in the occurrence and metastasis of cancer in the human body. [83][84][85][86][87] In 2017, Kim et al developed a b-gal-activated uorescent probe 28. 88 The main structure of the probe is dicyanomethylenedihydrofuran uorophore and linked galactose unit.…”

Section: Critical Reviewmentioning

confidence: 99%

Recent advances in small-molecule fluorescent probes with the function of targeting cancer receptors

Li,

Liu,

Zhu

et al. 2023

Anal. Methods

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“…The incidence of the disease in the European country of Malta is 1 case per 3700 live births 7 . In terms of race, Brazil has the highest frequency 8,9 and the disease has also been found in the Japanese, 10 Nigerian infantiles, 11 and Colombia 12 . A study by Georgiou et al found that the disease was also observed in Cypriot populations 13 .…”

Section: Introductionmentioning

confidence: 99%

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies

Hosseini,

Fallahi,

Tabei

et al. 2023

Cell Biochemistry & Function

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One of the most important inherited metabolic disorders is GM1 gangliosidosis, which is a progressive neurological disorder. The main cause of this disease is a genetic defect in the enzyme β‐galactosidase due to a mutation in the glb1 gene. Lack of this enzyme in cells (especially neurons) leads to the accumulation of ganglioside substrate in nerve tissues, followed by three clinical forms of GM1 disease (neonatal, juvenile, and adult variants). Genetically, many mutations occur in the exons of the glb1 gene, such as exons 2, 6, 15, and 16, so the most common ones reported in scientific studies include missense/nonsense mutations. Therefore, many studies have examined the genotype‐phenotype relationships of this disease and subsequently using gene therapy techniques have been able to reduce the complications of the disease and alleviate the signs and symptoms of the disease. In this regard, the present article reviews the general features of GM1 gangliosidosis and its mutations, as well as gene therapy studies and animal and human models of the disease.

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β-Galactosidase Deficiency in Colombia

Cited by 5 publications

References 23 publications

Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia

Determination of Reference Values for Alpha-N-Acetylglucosaminidase Activities in Patients with Sanfilippo Type B Disease and Control Population in Colombia

Recent advances in small-molecule fluorescent probes with the function of targeting cancer receptors

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies

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