Learn About Aspartylglucosaminuria

What is the definition of Aspartylglucosaminuria?

Aspartylglucosaminuria is a condition that primarily affects mental functioning and movement. This conditions worsens over time. Infants with aspartylglucosaminuria appear healthy at birth, and development is typically normal throughout early childhood. Around the age of 2 or 3, affected children usually begin to have delayed speech, mild intellectual disability, and problems coordinating movements. Other features that develop in childhood include respiratory infections, a protrusion of organs through gaps in muscles (hernia), and a growth spurt resulting in a large head size (macrocephaly).

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What are the causes of Aspartylglucosaminuria?

Variants (also known as mutations) in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complex chains of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins).

How prevalent is Aspartylglucosaminuria?

In Finland, it is estimated that 1 to 3 individuals are born with aspartylglucosaminuria each year. This condition is less common outside of Finland, but the incidence is unknown.

Is Aspartylglucosaminuria an inherited disorder?

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

Who are the top Aspartylglucosaminuria Local Doctors?
Elite
Highly rated in
9
conditions

University Of Giessen

Faculty Of Medicine 
Giessen, HE, DE 35392

Antje Banning is in Giessen, Germany. Banning is rated as an Elite expert by MediFind in the treatment of Aspartylglucosaminuria. She is also highly rated in 9 other conditions, according to our data. Her top areas of expertise are Aspartylglucosaminuria, CLN2 Disease, CLN4 Disease, and Neuronal Ceroid Lipofuscinoses.

Distinguished
Highly rated in
4
conditions

University Of Giessen

Giessen, HE, DE 35392

Ritva Tikkanen is in Giessen, Germany. Tikkanen is rated as a Distinguished expert by MediFind in the treatment of Aspartylglucosaminuria. They are also highly rated in 4 other conditions, according to our data. Their top areas of expertise are Aspartylglucosaminuria, Succinic Semialdehyde Dehydrogenase Deficiency, CLN5 Disease, and CLN1 Disease.

 
 
 
 
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Distinguished
Highly rated in
7
conditions

Radiology

Hus Medical Imaging Center, University Of Helsinki And Helsinki University Hospital 
Helsinki, FI 00029

Taina Autti is in Helsinki, Finland. Autti is rated as a Distinguished expert by MediFind in the treatment of Aspartylglucosaminuria. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Aspartylglucosaminuria, CLN5 Disease, CLN1 Disease, and CLN2 Disease.

What are the latest Aspartylglucosaminuria Clinical Trials?
MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG
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Who are the sources who wrote this article ?

Published Date:updated Last, January

Published By: National Institutes of Health

What are the Latest Advances for Aspartylglucosaminuria?
Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders.
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