Rare Oncology News
Advertisement
Disease Profile
Dihydropteridine reductase 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.
Unknown
Age of onset
Infancy
ICD-10
E70.1
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)
DHPR deficiency; Hyperphenylalaninemia, BH-4-deficient, C; Hyperphenylalaninemia due to dihydropteridine reductase deficiency;
Categories
Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases
Summary
Dihydropteridine reductase deficiency (DHPR) is a severe form of hyperphenylalaninemia (high levels of the
Symptoms
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 | ||
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Global |
0001263 | |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Percent of people who have these symptoms is not available through HPO | ||
0000007 | ||
Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
Choreoathetosis | 0001266 | |
0001332 | ||
Excessive salivation |
Mouth watering
Oversalivation
Watery mouth
[ more ] |
0003781 |
Hyperphenylalaninemia | 0004923 | |
Hypertonia | 0001276 | |
Infantile onset |
Onset in first year of life
Onset in infancy
[ more ] |
0003593 |
Irritability |
Irritable
|
0000737 |
Muscular |
Low or weak muscle tone
|
0001252 |
Myoclonus | 0001336 | |
Progressive neurologic deterioration |
Worsening neurological symptoms
|
0002344 |
Psychomotor retardation | 0025356 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
0001250 | ||
Tremor | 0001337 | |
0003828 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Newborn Screening
- When an infant is newly diagnosed with PKU, the Children's PKU Network will send the parents an express pack of information to help the family get adjusted. This packet is free of charge. Click on the link to read more about how to obtain a packet.
Treatment
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Management Guidelines
- Women with PKU who want to become pregnant can obtain a maternal express packet of information from the Children's PKU Network free of charge designed to assist women with their diet.
- Wappner, et al. Management of Phenylketonuria for Optimal Outcome: A Review of Guidelines for Phenylketonuria Management and a Report of Surveys of Parents, Patients, and Clinic Directors. Pediatrics.1999;104:e68.
- You can find diet-related information on the PKU News Web site. Click on the link to view.
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
|
---|
Differential diagnosis includes classical phenylketonuria, other causes of BH4 deficiencies (e.g. 6-Pyruvoyl-tetrahydropterin synthase deficiency, GTP cyclohydrolase I deficiency; see these terms), prenatal infections, Aicardi-Goutieres syndrome, infantile parkinsonism (e.g. dopamine transporter or tyrosine hydroxylase deficiency), and disorders affecting the white matter (e.g. neuronal ceroid lipofucsinosis, gangliosidosis, Alexander disease) (see these terms).
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
-
Children’s PKU Network
3306 Burmann Rd
Encinitas, CA 92024
Telephone: 858-756-0079
E-mail: [email protected]/
Website: https://www.pkunetwork.org/ -
National PKU News
PO Box 43552
Montclair, NJ 07043
Telephone: 973-619-9160
E-mail: [email protected]
Website: https://www.pkunews.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.
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 Dihydropteridine reductase deficiency. Click on the link to view a sample search on this topic.
References
- Dihidropteridine reductase deficiency. Orphanet. September, 2014; https://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=457. Accessed 12/28/2015.
- Tetrahydrobiopterin deficiency. Genetic Home Reference. July, 2011; https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency. Accessed 12/28/2015.
- Bodamer OA. Overview of phenylketonuria. June 21, 2016; https://www.uptodate.com/contents/overview-of-phenylketonuria.