Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Title

Other Names:

Mitochondrial encephalomyopathy aminoacidopathy; Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy aminoacidopathy; Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive; Booth-Haworth-Dilling syndrome; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Mitochondrial DNA depletion syndrome-5 See More

Categories:

Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases; Congenital and Genetic Diseases; Metabolic disorders; Nervous System Diseases; RDCRN See More

This disease is grouped under:

Mitochondrial DNA depletion syndrome

Summary Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Orpha Number: 1933

Disease definition

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.

Visit the Orphanet disease page for more resources.

Last updated: 7/3/2006

Symptoms 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.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal electroretinogram		0000512
Abnormality of visual evoked potentials		0000649
Aminoaciduria	High urine amino acid levels Increased levels of animo acids in urine [ more ]	0003355
Ataxia		0001251
Behavioral abnormality	Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ]	0000708
Cachexia	Wasting syndrome	0004326
Cerebral calcification	Abnormal deposits of calcium in the brain	0002514
Decreased nerve conduction velocity		0000762
Delayed gross motor development	Delayed motor skills	0002194
Elevated serum creatine phosphokinase	Elevated blood creatine phosphokinase Elevated circulating creatine phosphokinase Elevated creatine kinase Elevated serum CPK Elevated serum creatine kinase High serum creatine kinase Increased CPK Increased creatine kinase Increased creatine phosphokinase Increased serum CK Increased serum creatine kinase Increased serum creatine phosphokinase [ more ]	0003236
Generalized hirsutism	Excessive hairiness over body	0002230
Global developmental delay		0001263
Hyporeflexia	Decreased reflex response Decreased reflexes [ more ]	0001265
Intellectual disability, progressive	Mental retardation, progressive Progressive mental retardation [ more ]	0006887
Methylmalonic aciduria		0012120
Microcephaly	Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ]	0000252
Ptosis	Drooping upper eyelid	0000508
Seizures	Seizure	0001250
Sensorineural hearing impairment		0000407
Short stature	Decreased body height Small stature [ more ]	0004322
Skeletal muscle atrophy	Muscle degeneration Muscle wasting [ more ]	0003202
Ventriculomegaly		0002119
Visual impairment	Impaired vision Loss of eyesight Poor vision [ more ]	0000505
Percent of people who have these symptoms is not available through HPO
Abnormality of the basal ganglia		0002134
Athetosis	Involuntary writhing movements in fingers, hands, toes, and feet	0002305
Autosomal recessive inheritance		0000007
Cerebral atrophy	Degeneration of cerebrum	0002059
Decreased activity of mitochondrial respiratory chain		0008972
Dystonia		0001332
Facial diplegia		0001349
Failure to thrive	Faltering weight Weight faltering [ more ]	0001508
Feeding difficulties in infancy		0008872
Generalized hypotonia	Decreased muscle tone Low muscle tone [ more ]	0001290
Infantile onset	Onset in first year of life Onset in infancy [ more ]	0003593
Irritability	Irritable	0000737
Lactic acidosis	Increased lactate in body	0003128
Loss of ability to walk in early childhood		0008945
Methylmalonic acidemia		0002912
Muscular hypotonia	Low or weak muscle tone	0001252
Ophthalmoplegia	Eye muscle paralysis	0000602
Peripheral neuropathy		0009830
Progressive encephalopathy		0002448
Respiratory insufficiency due to muscle weakness		0002747
Spasticity	Involuntary muscle stiffness, contraction, or spasm	0001257
Strabismus	Cross-eyed Squint Squint eyes [ more ]	0000486

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 11/1/2018

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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.

Find a Specialist Find a Specialist

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.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

The North American Mitochondrial Disease Consortium (NAMDC) is a team of doctors, nurses, research coordinators, and research labs throughout the U.S., working together to improve the lives of people with this condition through research. The North American Mitochondrial Disease Consortium (NAMDC) has a registry for patients who wish to be contacted about clinical research opportunities.

For more information on the registry see: http://rarediseasesnetwork.epi.usf.edu/registry/index.htm

Organizations 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

MitoAction
PO Box 51474
Boston, MA 02205
Toll-free: 888-648-6228
Telephone: 1-888-MITO-411 (648-6411) for support line
E-mail: info@mitoaction.org
Website: http://www.mitoaction.org
United Mitochondrial Disease Foundation
8085 Saltsburg Road, Suite 201
Pittsburgh, PA 15239
Toll-free: 888-317-8633
Telephone: 412-793-8077
Fax: 412-793-6477
E-mail: info@umdf.org
Website: http://www.umdf.org

Do you know of an organization? We want to hear from you.

Learn More 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 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria. Click on the link to view a sample search on this topic.

News & Events News & Events

News

The NIH Undiagnosed Diseases Network Expands
September 26, 2018

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

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