Alpha-Mannosidosis: Research, Diagnosis, Treatment, and Policy

Running head: ALPHA-MANNOSIDOSIS 1
Alpha-Mannosidosis
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Introduction

ALPHA-MANNOSIDOSIS 2
Alpha-mannosidosis (OMIM 248500 ) is an infrequent recessive disease that emanates
from deficient functions of lysosomal alpha-mannosidase(Enzyme Commission number:
3.2.1.24) (4). In human beings, the disorder is generally characterized by skeletal and facial
anomalies, intellectual disability, hearing damage, and immune deficiency (2). The disorder is
categorized in a group of disorders identified as lysosomal storage diseases. This essay aims to
describe the Alpha-mannosidosis disorder, research, diagnosis treatment, and policy pertinent to
the condition.
Research
Alpha-mannosidosis occurs in at least one individual in every five hundred thousand live
births. Changes in the MAN2B1 gene cause the condition. MAN2B1 gene is attributed to the
production of enzyme alpha-mannosidase (6). The protein is essential in the functioning of the
lysosomes, which are sections that recycle and digest materials in the cells (3). Alpha-
mannosidase in the lysosomes helps in the breakdown of complex sugar molecules named
oligosaccharides which are attached to various glycoproteins (1). Therefore, the enzyme is
essential in the breakdown of oligosaccharides that contain sugar molecules termed as mannose.
The mutation in the MAN2B1 gene interrupts the capacity of the alpha-mannosidase
protein to carry out its function in the breakdown of mannose encompassing oligosaccharides.
The oligosaccharides gather in the lysosomes, which consequently leads to cell failure and
eventual death (1). The abnormal accumulation of the oligosaccharides leads to tissue and organ
damage and destruction of the cell leading to the characteristics features of alpha-mannosidosis.
Alpha-mannosidosis can be hereditary in an autosomal recessive form which signifies
that the two duplicates of the gene in the cells experience mutation. An individual’s parent with

ALPHA-MANNOSIDOSIS 3
the autosomal recessive disorder carries a copy of the transformed gene; however, they do not
show any symptoms and signs of the disorder (1,14). Management of the disease should be
proactive to treat manifestations, prevent complications as well as improve the quality of life.
Diagnosis
Alpha-mannosidosis diagnosis is suspected grounded on the identification of a thorough
clinical evaluation, a detailed history of the suspected patient, characteristic findings and specific
assessments that can identify levels or activity of the protein alpha-mannosidase in leukocytes or
fibroblasts (14). Several laboratory tests can be used for disease diagnosis. Molecular genetic
testing can be used to confirm the condition (7). Molecular genetic screening is used to disclose
the distinguishing mutation of the MAN2B1 gene that leads to the disease (2). The genetic
analysis is essential in enzymatic diagnosis confirmation and can be used in prenatal diagnosis
and genetic counseling of individuals concerned (14). High levels of some mannose-rich
oligosaccharides can be identified through urinary analysis. The urinary analysis diagnosis is,
however, considered suggestive of the condition, and it is not diagnostic, but the first step in the
diagnostic path.
Individuals with the condition experience challenges in coordinating movement, muscle
weakness, delay in developing motor skills for instance speech losses, increased risk of
contaminations, enlargement of spleen and liver, fluid buildup in the brain, loss of hearing, and
clouding of the lens of the eye (5). Other individuals with the condition experience psychiatric
symptoms, for instance, anxiety, depression, and hallucinations.
As of now, approximately one hundred and fifty-five mutations of MAN2B1 linked to
alpha-mannosidosis have been recognized globally. However, no clear connection between