Rare Ophthalmology News
Advertisement
Disease Profile
Adenylosuccinase deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 >
Age of onset
Childhood
ICD-10
E79.8
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Adenylosuccinate lyase deficiency; ADSL deficiency
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Adenylosuccinase deficiency impacts the way the body breaks down certain chemicals and results in damage to the nervous system. There are several types of adenylosuccinase deficiency. Symptoms vary greatly from person to person. In general, adenylosuccinase deficiency causes intellectual and movement disabilities, autistic features,
Symptoms
Signs and symptoms include:[3]
Intellectual disability - Severe motor delay
Seizures - Low muscle tone
- Autistic behaviors
Symptoms of adenylosuccinase deficiency tend to get worse over time. There are three types of adenylosuccinase deficiency. The most severe form is the fatal neonatal form in which symptoms are present in infancy. In the other forms, symptoms begin later in childhood. Less than 100 people have been reported with this condition and the severity of symptoms is different from person to person.[1][3][4]
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Anteverted nares |
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] |
0000463 |
Brachycephaly |
Short and broad skull
|
0000248 |
Flat occiput | 0005469 | |
Generalized |
Decreased muscle tone
Low muscle tone
[ more ] |
0001290 |
Hypointensity of cerebral white matter on |
0007103 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Long philtrum | 0000343 | |
Low-set ears |
Low set ears
Lowset ears
[ more ] |
0000369 |
Decreased circumference of cranium
Abnormally small skull
Small head circumference
Reduced head circumference
Decreased size of skull
[ more ] |
0000252 | |
Prominent metopic ridge | 0005487 | |
Seizure | 0001250 | |
Severe global |
0011344 | |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Smooth philtrum | 0000319 | |
Thin upper lip vermilion |
Thin upper lip
|
0000219 |
5%-29% of people have these symptoms | ||
Happy demeanor | 0040082 | |
Percent of people who have these symptoms is not available through HPO | ||
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
0000717 | ||
0000007 | ||
Brisk reflexes | 0001348 | |
Cerebellar atrophy |
Degeneration of cerebellum
|
0001272 |
Cerebral atrophy |
Degeneration of cerebrum
|
0002059 |
Cerebral hypomyelination | 0006808 | |
0003429 | ||
Delayed speech and language development |
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] |
0000750 |
Gait |
Inability to coordinate movements when walking
|
0002066 |
Global developmental delay | 0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hyperactivity |
More active than typical
|
0000752 |
Inability to walk | 0002540 | |
Inappropriate laughter | 0000748 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Myoclonus | 0001336 | |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Opisthotonus | 0002179 | |
Poor eye contact | 0000817 | |
Self-mutilation |
Deliberate self-harm
Self mutilation
[ more ] |
0000742 |
Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
Cause
Diagnosis
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
The differential diagnoses include neurological disorders with intractable seizures and encephalopathy, and other inborn errors of purine and pyrimidine metabolism with neurological manifestations.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Autism Speaks
1 East 33rd St.
4th Floor
New York, NY 10016
Telephone: 212-252-8584
Fax: 212-252-8676
E-mail: [email protected]
Website: https://www.autismspeaks.org -
Metabolic Support UK
5 Hilliards Court
Sandpiper Way
Chester Business Park
Chester, CH4 9QP United Kingdom
Toll-free: 0800 652 3181
Telephone: 0845 241 2173
E-mail: https://www.metabolicsupportuk.org/contact-us
Website: https://www.metabolicsupportuk.org
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- Genetics Home Reference (GHR) contains information on Adenylosuccinase deficiency. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Adenylosuccinase deficiency. Click on the link to view a sample search on this topic.
Diagrams/Images
- The Autism Speaks has developed a new Video Glossary, an innovative web-based tool designed to help parents and professionals learn more about the early red flags and diagnostic features of autism spectrum disorders (ASD). This glossary contains more than 150 video clips and is free of charge.
References
- Adenylosuccinate lyase deficiency. National Organization for Rare Disorders (NORD). Updated 2010; https://rarediseases.org/rare-diseases/adenylosuccinate-lyase-deficiency.
- Mao X, Li K, Tang B, et al. Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. Sci Rep. 2017; 7(1):1625. https://pubmed.ncbi.nlm.nih.gov/28487569.
- Jurecka A, Zikanova M, Kmoch S, Tylki-Szymanska A. Adenylosuccinate lyase deficiency. J Inherit Metab Dis. 2015; 38(2):231-242. https://pubmed.ncbi.nlm.nih.gov/25112391.
- Mastrangelo M, Alfonsi C, Screpanti I, et al. Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis. Mol Genet Metab Rep. 2019; 21:100502. https://pubmed.ncbi.nlm.nih.gov/31467849.
- Kayfan S, Yazdani RM, Castillo S, Wong K, Miller JH, Pfeifer CM. MRI findings of hypomyelination in adenylosuccinate lyase deficiency. Radiol Case Rep. 2018; 14(2):255-259. https://pubmed.ncbi.nlm.nih.gov/30510607.
- Ferreira CR. Prevalence of adenylosuccinate lyase deficiency based on aggregated exome data.. Mol Genet Metab Rep. 2017; 10:81-82. https://pubmed.ncbi.nlm.nih.gov/28127531.
Rare Ophthalmology News