1. ALPERS' PROGRESSIVE INFANTILE POLIODYSTROPHY Features listed for this disorder.Category Health Conditions and Diseases Alpers......Features Listed For ALPERS' progressive infantile poliodystrophy.McKusick 203700. Abnormal liver (including function); Ataxia; Broad http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?63

2. Alpers' Disease (www.whonamedit.com) progressive cerebral degeneration in infancy, progressive cerebral poliodystrophy,progressive infantile poliodystrophy, progressive poliodystrophy. http://www.whonamedit.com/synd.cfm/1459.html

Home List categories Eponyms A-Z Biographies by country ... Contact Alpers' disease Also known as: Christensen's disease Christensen-Krabbe disease Synonyms: Diffuse cortical sclerosis, familial degeneration of the cerebral grey matter in childhood, poliodysplasia cerebri, poliodystrophia cerebri progressiva, poliodystrophia progressiva corticalis, poliodystrophia cerebri progressiva infantilis, progressive cerebral degeneration in infancy, progressive cerebral poliodystrophy, progressive infantile poliodystrophy, progressive poliodystrophy. Associated persons: Bernard Jacob Alpers Erna Christensen Knud Haraldsen Krabbe Description: A rare degenerative disease of the brain, predominantly involving the grey matter. It is characterised by acute onset of severe convulsions leading to rapid intellectual and bodily breakdown. Other characteristics are blindness and deafness, myoclonus, spasticity, choroathetosis, cerebellar ataxia, growth retardation, and terminal decortication. Manifests in early childhood and usually causes death within months. In its familial form, the disorder is transmitted as an autosomal recessive trait. Alpers’ disease was first recognized by Alfons Maria Jakob (1884-1931), and accounts of this were published by three of his students, Souza (Madrid), Freedom (Baltimore), and Alpers in Philadelphia. The eponymic term Alper's disease was introduced by Blackwood, et al in 1963.

3. Mitochondrial Information Information provided for and by The Children’s Mitochondrial Disease NetworkAlpers Disease progressive infantile poliodystrophy Barth Syndrome - Lethal http://www.emdn-mitonet.co.uk/info.htm

family page history emdn glossary membership ... home page The Children’s Mitochondrial Disease Network Alpers Disease - Progressive Infantile Poliodystrophy Barth Syndrome - Lethal Infantile Cardiomyopathy Beta-oxidation Defects - See - LCAD, LCHAD, MAD, SCAD, SCHAD, VLCAD Carnitine Deficiency / Myopathy Cartnitine-Acyl-Carnitine Deficiency Complex I Deficiency - NADH dehydrogenease (NADH-CoQ Reducatase) Deficiency Complex II Deficiency - Succinate Dehydrogenase Deficiency Complex III Deficiency - Ubiquinone-cytrochrome C Oxidoreductase Deficiency Complex IV Deficiency / Cox Deficiency - Cytochrome C Oxidase deficiency is caused by a defect in Complex IV of the respiratory chain Complex V Deficiency - ATP Synthase Deficiency CPEO - Chronic Progressive External Ophthalmoplegia Syndrome Fatty Acid Oxidation Disorders KSS - Kearns-Sayre Syndrome Lactic Acidosis - The accumulation of Lactic Acid due to its production exceeding its use. Chronic lactic acidosis is a common symptom of mitochondrial disease.

4. Mitochondrial Conditions Alpers Disease (progressive infantile poliodystrophy); Barth syndrome (CardiomyopathyNeutropenia Syndrome) / Lethal http://www.kumc.edu/gec/support/mitochon.html

Mitochondrial Conditions Alpers Disease (Progressive Infantile Poliodystrophy); Barth syndrome (Cardiomyopathy-Neutropenia Syndrome) / Lethal Infantile Cardiomyopathy (LIC); Beta-oxidation Defects; Carnitine Deficiency and Disorders; Chronic Progressive External Ophthalmoplegia Syndrome (CPEO); Kearns-Sayre Syndrome (KSS); Lactic Acidosis; Leber Hereditary Optic Neuropathy (LHON); Leigh Disease (Subacute Necrotizing Encephalomyelopathy); Long-Chain Acyl-CoA Dehydrogenase (LCAD) Deficiency; Luft Disease; Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency; Mitochondrial Cytopathy; Mitochondrial Encephalomyopathy Lactic Acidosis and Strokelike Episodes (MELAS); Mitochondrial Encephalopathy; Mitochondrial Myopathy; Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency / Glutaric Aciduria Type II; Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); Myoneurogastointestinal Disorder and Encephalopathy (MNGIE); Neuropathy Ataxia and Retinitis Pigmentosa (NARP); Pearson Syndrome; Pyruvate Carboxylase Deficiency; Pyruvate Dehydrogenase Deficiency (PHD); Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Respiratory Chain Disorders: Complex I: NADH dehydrogenase (NADH-CoQ reductase) deficiency, Complex II: Succinate dehydrogenase deficiency, Complex III: Ubiquinone-cytochrome c oxidoreductase deficiency, Complex IV: Cytochrome c oxidase (COX) deficiency, Complex V: ATP synthase deficiency

5. UMDF Supported Diseases Alpers Disease (progressive infantile poliodystrophy). Barth Syndrome (CardiomyopathyNeutropenia Syndrome). Lethal http://www.umdf.org/aboutumdf/diseases.html

About UMDF Supported Diseases UMDF offers support to all sufferers of mitochondrial disorders regardless of diagnosis, suspected or confirmed. The following is a partial list of named mitochondrial disorders represented by the UMDF: Alpers Disease (Progressive Infantile Poliodystrophy) Barth Syndrome (Cardiomyopathy-Neutropenia Syndrome) Lethal Infantile Cardiomyopathy (LIC) Beta-oxidation defects CPEO (Chronic Progressive External Ophthalmoplegia) Kearns-Sayre Syndrome (KSS) Lactic Acidosis Leber Hereditary Optic Neuropathy (LHON) Leigh's Disase (Subacute Necrotizing Encephalomyelopathy) Long-Chain Acyl-CoA Dehydrongenase (LCAD) Deficiency Luft Disease Medium-Chain Acyl-CoA Dehydrongenase (MCAD) Deficiency Mitochondrial Cytopathy Mitochondrial Encephalopathy Mitochondrial Myopathy Multiple Acyl-CoA Dehydrogenase (MAD) Deficiency Glutaric Aciduria Type II Myoneurogastrointestinal Disorder and Encephalopathy (MNGIE) Pearson Syndrome Pyruvate Carboxylase Deficiency Pyruvate Dehydrogenase Deficiency (PHD) Short-Chain Acyl-CoA Dehydrogenase (SCAD) Deficiency Respiratory Chain Disorders Complex I - NADH Dehydrogenase (NADH-CoQ reductase) Deficiency Complex II - Succinate dehydrogenase Deficiency Complex III - Ubiquinone-cytochrome c oxidoreductase Deficiency Complex IV - Cytochrome c oxidase (

6. Health Library - Alpers Disease Synonyms. Alpers Diffuse Degeneration of Cerebral Gray Matter withHepatic Cirrhosis; Alpers progressive infantile poliodystrophy; http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

7. United Mitochondrial Disease Foundation - Medical Article List By Subject Subject Alpers Disease (progressive infantile poliodystrophy). Back to the Subject List http://www.umdf.org/data/query/alpers.htm

The UMDF Medical Article List Subject: Alpers Disease (Progressive Infantile Poliodystrophy) Back to the Subject List United Mitochondrial Disease Foundation We welcome any suggested additions to our list. Last updated: 26-Jun-98 REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers Frydman ; M ; 1997* ; Alpers progressive infantile neuronal poliodystrophy: an acute neonatal form with findings of the fetal akinesia syndrome. ; American Journal of Medical Genetics ; 1993 ; 47(1) ; 31-6 Montine ; TJ ; 3814 ; Alpers' syndrome presenting with seizures and multiple stroke-like episodes in a 17-year-old male. ; Clin Neuropathol ; 1995 ; 14(6) ; 322-326 Narkewicz ; MR ; 2004 ; Liver involvement in Alpers disease. ; Journal of Pediatrics ; 1991 ; 119(2) ; 260-7 Wilson ; DC ; 1998* ; Progressive neuronal degeneration of childhood (Alpers syndrome) with hepatic cirrhosis. ; European Journal of Pediatrics ; 1993 ; 152(3) ; 260-2 Worle ; H ; 6380 ; Progressive cerebral degeneration of childhood with liver disease (Alpers Huttenlocher disease) with cytochrome oxidase deficiency presenting with epilepsia partialis continua as the first clinical manifestation. ; Clin Neuropathol ; 1998 ; 17(2) ; 63-8

8. Alpers 1 Pr Alpers Disease (Alpers progressive infantile poliodystrophy or ChristensenKrabbe Disease) Progressive neurodegenerative disease http://www.isat.jmu.edu/common/projects/mtDNA/Alpers%201%20Pr.html

Alpers Disease (Alpers Progressive Infantile Poliodystrophy or Christensen-Krabbe Disease) Progressive neurodegenerative disease SYMPTOMS : convulsions, epiliptic seizures, neuronal degeneration (result in spongiform tissue), dementia, spasticity, massive liver failures, and monoclonus Only been 13 cases reported since 1931 Could be a result of the disease masking itself as something else, such as childhood jaundice or liver failure Next

9. University Of Miami School Of Medicine - Glossary - Alpers Disease Alpers disease is also called Alpers progressive infantile poliodystrophy, progressiveinfantile poliodystrophy, diffuse degeneration of cerebral gray matter http://www.med.miami.edu/patients/glossary/art.asp?articlekey=8929

10. University Of Miami School Of Medicine Product, gene Progeny Progeria Progesterone Prognathism Prognosis Programmed celldeath Progressive progressive infantile poliodystrophy Progressive multifocal http://www.med.miami.edu/patients/glossary/list.asp?L=P&T=DICT

11. Mitochondrial Diseases with them. Some of the ones listed include Alpers Disease. Long nameprogressive infantile poliodystrophy. Symptoms seizures, dementia http://www.tsbvi.edu/Outreach/seehear/spring02/mitochondrial.htm

Home Site TOC Site Search Outreach ... Spring 2002 Table of Contents Mitochondrial Diseases Excerpted and reprinted with permission from the United Mitochondrial Disease Foundation, Inc. http://www.umdf.org/ SEE/HEAR Editor's note: A number of children in Texas who are visually impaired or deafblind have as the cause of their sensory loss, Mitochondrial diseases. In order to understand more about these diseases, I visited the United Mitochondrial Disease Foundation website. I learned that we have a great opportunity in Texas to learn more about these diseases because their 5th International Conference on Mitochondrial Diseases will be held this year in Dallas. I want to thank the UMDF for letting me excerpt portions of the wealth of information they provide on their website to share with our SEE/HEAR readers. I encourage you to visit this website if you have a child with a Mitochondrial disease or if you are a teacher working with one of these children. Basis of the Disease Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.

12. NORD - National Organization For Rare Disorders, Inc. Alpers progressive infantile poliodystrophy; Diffuse Cerebral Degeneration in Infancy;Poliodystrophia Cerebri Progressiva; Progressive Cerebral Poliodystrophy. http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Alpers Diseas

13. Terms & Definitions ADVOCATE One who supports or defends a cause. One who pleads on behalfof another. ALPER DISEASE progressive infantile poliodystrophy. http://www.umdf.org/mitodisease/definitions.html

ESSENTIAL PREFIXES: Hyper - means more than normal (i.e.: hyperactive means excessive activity) Hypo - mean less than normal (i.e.: hypotonic means less than normal muscle tone) ESSENTIAL SUFFIXES: -emia and -osis: Refers to blood (i.e.: acidosis refers to acid in the blood, ketosis refers to ketones in the blood, hyperglycinemia refers to excess glycine in the blood.) -uria: Refers to urine: (i.e.:aminoaciduria means amino acids in the urine) DEFINITIONS: ACIDOSIS: Elevated amounts of organic acids in the blood, which accumulate when food is not properly metabolized. ADP : Adenosine diphosphate; the low energy product produced when ATP releases energy to the cell. ADVOCATE: One who supports or defends a cause. One who pleads on behalf of another. ALPER DISEASE: Progressive Infantile Poliodystrophy. Cases of Alper disease may be caused by disorders of oxidative phosphorylation, including mitochondrial DNA depletion syndromes APHASIA: Impaired or absent language function, usually referring to speech; which results from an injury to brain structures usually in the dominant hemisphere (the side of the brain that controls language function is usually the side opposite to the handedness of the person and is referred to as the dominant hemisphere by definition)

14. Alpers Huttenlocher Disease (codes) Alpers' Progressive Infantile alpers huttenlocher disease (codes). alpers' progressive infantile poliodystrophy(codes). progressive infantile cerebral poliodystrophy (codes). http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=13

15. United Mitochondrial Disease Foundation alpers progressive infantile poliodystrophy barth cardiomyopathy neutropeniabeta oxidation defects carnitine deficiency chronic progressive external http://www.medhelp.org/amshc/amshc454.htm

Title: Foundation for Nager and Miller Syndromes Description: Networking for families that are affected by Nager or Miller Syndromes. Provides referrals, library of information, phone support, newsletter, brochures, scholarships for Camp About Face. Scope: International Founded: Address: c/o Margaret Ieronimo 1827 Grove St. Glenview, Illinois, 60025-2913 United States Telephone: Fax: Email: fnms@interaccess.com Web Address: http://www.fnms.net This information has been generously provided by The American Self Help Clearinghouse and hosted by Med Help International . Please send corrections/updates to ed@selfhelpgroups.org Updated: 02/2003

16. Definitions Of Genetic Disorders -P disease/ds.html. progressive infantile poliodystrophy (Alpers) http//www.stepstn.com/nord/rdb_sum/610.htm.Progressive Multifocal http://www.icomm.ca/geneinfo/def-p.htm

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter P Click on the link next to the disorder to view its definition. P-V congheart.html PA amenor.htm PAC arrhythm.htm Pachyonychia Ichtyosiforme pachon.htm Pachyonychia Congenita with Natal Teeth pachon.htm Pachyonychia Congenita ed.htm Pachyonychia Congenita Keratosis Disseminata Circumscripta (follicularis) pachon.htm Pachyonychia Congenita Jadassohn-Lewandowsky Type pachon.htm PAF with MSA shydrager.htm Paget's Disease paget.htm Paget's Disease of Bone paget.htm Paget's Disease of the Breast pagetbr.htm Paget's Disease of the Nipple pagetbr.htm Paget's Disease of the Nipple and Areola pagetbr.htm Pagon Syndrome walkerwar.htm Painful Ophthalmoplegia tolosahunt.htm PAIS androgen.htm Palatal Myoclonus myoclonus.htm

17. IComm: File Not Found! Different alleles produce variations in inherited characteristics such as eyecolor or blood type. Alper Disease progressive infantile poliodystrophy. http://www.icomm.ca/geneinfo/glos-a.htm

File Not Found We're sorry, but the file you're looking for can't be found. You might want to try starting at our front page or a list of iComm accountholders , or you can search the site This site was last updated on 30 August 2002. iComm Questions regarding the iComm web site should be sent to our webmaster

18. Alpers 1 Pr Alpers Disease (Alpers progressive infantile poliodystrophy or ChristensenKrabbeDisease). Progressive neurodegenerative disease. http://www.cs.jmu.edu/common/projects/mtDNA/Alpers 1 Pr.html

Alpers Disease (Alpers Progressive Infantile Poliodystrophy or Christensen-Krabbe Disease) Progressive neurodegenerative disease SYMPTOMS : convulsions, epiliptic seizures, neuronal degeneration (result in spongiform tissue), dementia, spasticity, massive liver failures, and monoclonus Only been 13 cases reported since 1931 Could be a result of the disease masking itself as something else, such as childhood jaundice or liver failure Next

19. Alpers Syndrome Resource Updates 11706100 PubMed indexed for MEDLINE 5 Ryoikibetsu Shokogun Shirizu 2001;(36)176-7Alpers disease(progressive infantile poliodystrophy) Article in http://www.health.xq23.com/inst/Research_Updates/Alpers_Syndrome.html

Alpers Syndrome resources. Information for medical researchers, health professionals, bioscientists, and policy makers. Recommended References. [see index for total category] KEY ABSTRACTS: PUBMED Citations: Innovations and emerging technologies in Alpers Syndrome, Patent List (when available) for Alpers Syndrome: Recommended Readings and Related Discussion Latest books on: Alpers Syndrome Books: for your convenience: Holiday Gift Ideas Resources Diet and Nutrition Allergies ULTRAToolBox Best Retirement Spots ... Income Tax Popular Readings: more to come ...

20. 1Up Health > Health Links Directory > Conditions And Diseases: P Ejaculation (13) Priapism (8) Primary Ovarian Failure (7) Primary Progressive Aphasia(3) Progeria (9) progressive infantile poliodystrophy (8) Progressive http://www.1uphealth.com/links/conditions-and-diseases-p.html

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