The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Intrauterine growth retardation||5%|
|Nonimmune hydrops fetalis||5%|
|Abnormality of the amniotic fluid||-|
|Autosomal recessive inheritance||-|
|Chronic hemolytic anemia||-|
|Increased red cell osmotic fragility||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My first child has the gene responsible for pyruvate kinase deficiency. Are there ways to monitor for this condition prenatally? Where can we access genetic testing for pyruvate kinase deficiency? See answer
My granddaughter has been diagnosed with pyruvate kinase deficiency. I have many questions about this condition, including how many people may be affected and if it is more common in any particular population. Any information you could provide would be helpful. See answer
My son was diagnosed with pyruvate kinase deficiency when he was a baby. My husband and I were tested and are negative for being carriers. Could you tell me what else could cause pyruvate kinase deficiency? See answer
My child, who is under 6 months old, has pyruvate kinase deficiency. What impact will this diagnosis have for her in the future? See answer