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  3. Pyruvate decarboxylase deficiency
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Pyruvate decarboxylase deficiency


Title


Other Names:
Ataxia, intermittent, with pyruvate dehydrogenase, or decarboxylase, deficiency; Ataxia with lactic acidosis 1

Symptoms Symptoms


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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.

Showing of 32 |
Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Abnormal facial shape
Unusual facial appearance
0001999
Percent of people who have these symptoms is not available through HPO
Abnormality of eye movement
Abnormal eye movement
Abnormal eye movements
Eye movement abnormalities
Eye movement issue
[ more ]
0000496
Agenesis of corpus callosum 0001274
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ]
0000463
Apneic episodes precipitated by illness, fatigue, stress 0002872
Basal ganglia cysts 0006799
Cerebral atrophy
Degeneration of cerebrum
0002059
Choreoathetosis 0001266
Chronic lactic acidosis 0004925
Decreased activity of the pyruvate dehydrogenase complex 0002928
Dystonia 0001332
Episodic ataxia 0002131
Flared nostrils 0000454
Frontal bossing 0002007
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ]
0001290
Global developmental delay 0001263
Hyperalaninemia
Increased blood alanine
Increased serum alanine
[ more ]
0003348
Increased CSF lactate 0002490
Increased serum lactate 0002151
Infantile onset
Onset in first year of life
Onset in infancy
[ more ]
0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Lethargy 0001254
Long philtrum 0000343
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ]
0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Ptosis
Drooping upper eyelid
0000508
Seizures
Seizure
0001250
Severe lactic acidosis 0004900
Small for gestational age
Birth weight less than 10th percentile
Low birth weight
[ more ]
0001518
Ventriculomegaly 0002119
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ]
0000431
X-linked dominant inheritance 0001423
Showing of 32 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2019
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More


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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 Pyruvate decarboxylase deficiency. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • NIH Hosts Rare Disease Day Event, Twitter Chat
    January 24, 2019

NCATS Co-Sponsored Conferences

  • Nutritional Interventions in Primary Mitochondrial Disorders: Developing an Evidence Base Tuesday, December 2, 2014 - Wednesday, December 3, 2014
    Location: NIH Campus, Bethesda, MD

    Description: The goal of this meeting is to explore the use of nutritional interventions, including dietary supplements, in primary mitochondrial disorders (PMD); identify gaps in knowledge; develop a research agenda; and identify research opportunities to promote an evidence base for the use of nutritional interventions in primary mitochondrial disorders.

    Contact: Kathryn Camp, MS, RD, CSP,(301) 435-3608, campkm@od.nih.gov

    Co-funding Institute(s): Office of Dietary Supplements, Office of Rare Diseases Research

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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