Beta-Mannosidosis

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This entry is adapted from https://medlineplus.gov/genetics/condition/beta-mannosidosis

Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body.

genetic conditions

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Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :

Catherine Yang

View Times: 184

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

1. Introduction

Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence. Almost all individuals with beta-mannosidosis experience intellectual disability, and some have delayed motor development and seizures. Affected individuals may be extremely introverted, prone to depression, or have behavioral problems such as hyperactivity, impulsivity or aggression.

People with beta-mannosidosis may experience an increased risk of respiratory and ear infections, hearing loss, speech impairment, swallowing difficulties, poor muscle tone (hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial features and clusters of enlarged blood vessels forming small, dark red spots on the skin (angiokeratomas).

2. Frequency

Beta-mannosidosis is believed to be a very rare disorder. Approximately 20 affected individuals have been reported worldwide. It is difficult to determine the specific incidence of beta-mannosidosis, because people with mild or non-specific symptoms may never be diagnosed.

3. Causes

Mutations in the MANBA gene cause beta-mannosidosis.

The MANBA gene provides instructions for making the enzyme beta-mannosidase. This enzyme works in the lysosomes, which are compartments that digest and recycle materials in the cell. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins). Beta-mannosidase is involved in the last step of this process, helping to break down complexes of two sugar molecules (disaccharides) containing a sugar molecule called mannose.

Mutations in the MANBA gene interfere with the ability of the beta-mannosidase enzyme to perform its role in breaking down mannose-containing disaccharides. These disaccharides gradually accumulate in the lysosomes and cause cells to malfunction, resulting in the signs and symptoms of beta-mannosidosis.

4. Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

5. Other Names for This Condition

beta-D-mannosidosis
beta-mannosidase deficiency
lysosomal beta A mannosidosis
lysosomal beta-mannosidase deficiency

References

Alkhayat AH, Kraemer SA, Leipprandt JR, Macek M, Kleijer WJ, Friderici KH.Human beta-mannosidase cDNA characterization and first identification of amutation associated with human beta-mannosidosis. Hum Mol Genet. 1998Jan;7(1):75-83.
Bedilu R, Nummy KA, Cooper A, Wevers R, Smeitink J, Kleijer WJ, Friderici KH. Variable clinical presentation of lysosomal beta-mannosidosis in patients withnull mutations. Mol Genet Metab. 2002 Dec;77(4):282-90.
Gort L, Duque J, Fabeiro JM, Zulaica A, Coll MJ, Chabás A. Molecular analysis in two beta-mannosidosis patients: description of a new adult case. Mol GenetMetab. 2006 Dec;89(4):398-400.
Molho-Pessach V, Bargal R, Abramowitz Y, Doviner V, Ingber A, Raas-Rothschild A, Ne'eman Z, Zeigler M, Zlotogorski A. Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. J Am Acad Dermatol.2007 Sep;57(3):407-12.
Uchino Y, Fukushige T, Yotsumoto S, Hashiguchi T, Taguchi H, Suzuki N,Konohana I, Kanzaki T. Morphological and biochemical studies of humanbeta-mannosidosis: identification of a novel beta-mannosidase gene mutation. Br JDermatol. 2003 Jul;149(1):23-9.
Zhu M, Lovell KL, Patterson JS, Saunders TL, Hughes ED, Friderici KH.Beta-mannosidosis mice: a model for the human lysosomal storage disease. Hum Mol Genet. 2006 Feb 1;15(3):493-500.

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Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register :

Catherine Yang

View Times: 184

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

1. Introduction

2. Frequency

3. Causes

4. Inheritance

5. Other Names for This Condition

References

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1. Introduction

2. Frequency

3. Causes

3.1. The Gene Associated with Beta-Mannosidosis

4. Inheritance

5. Other Names for This Condition

References

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