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Genetic neurological disease
Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta
Adrenoleukodystrophy
1992 drama film directed by George Miller
Michaela Odone, parents who search for a cure for their son Lorenzo's adrenoleukodystrophy (ALD), leading to the development of Lorenzo's oil. The film was
Lorenzo's_Oil
Mixture of modified vegetable oils used in treating adrenoleukodystrophy
used in the investigational treatment of asymptomatic patients with adrenoleukodystrophy (ALD), a nervous system disorder. Development of the oil was led
Lorenzo's_oil
Group of disorders characterised by degeneration of white matter in the brain
inhaled saliva. Classic symptomatic progression of juvenile X-linked adrenoleukodystrophy is shown in the 1992 film, Lorenzo's Oil. Course and timetable are
Leukodystrophy
Family members of Lorenzo Odone
Lorenzo Michael Murphy Odone (May 29, 1978 – May 30, 2008), who had adrenoleukodystrophy (ALD). They became famous for developing a controversial treatment
Augusto, Michaela, and Lorenzo Odone
Augusto,_Michaela,_and_Lorenzo_Odone
Medical condition
Neonatal adrenoleukodystrophy is an inborn error of peroxisome biogenesis. It is part of the Zellweger spectrum. It has been linked with multiple genes
Neonatal_adrenoleukodystrophy
Rare inherited neurodegenerative disorder
dysfunction and adrenal insufficiency. AMN is a form of X-linked adrenoleukodystrophy, a peroxisomal disorder caused by mutations in the ABCD1 gene. Symptoms
Adrenomyeloneuropathy
Endocrine disorder
may also be affected. Adrenal destruction is also a feature of adrenoleukodystrophy, and when the adrenal glands are involved in metastasis (seeding
Addison's_disease
Insufficient production of steroid hormones by the adrenal glands
cases since 1950. Congenital: e.g. congenital adrenal hyperplasia, adrenoleukodystrophy Infection: e.g. tuberculosis, CMV, histoplasmosis Drugs: e.g. anticonvulsants
Adrenal_insufficiency
Gene therapy medication
the brand name Skysona, is a gene therapy used to treat cerebral adrenoleukodystrophy (CALD). It was developed by Bluebird Bio and was given breakthrough
Elivaldogene_autotemcel
Disease that damages the myelin sheaths around nerves
multiple sclerosis Experimental autoimmune encephalomyelitis Hereditary Adrenoleukodystrophy Alexander disease Canavan disease Krabbe disease Metachromatic leukodystrophy
Multiple_sclerosis
Protein-coding gene in humans
Defects in this gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of
ABCD1
Rare symptom of brain damage where those affected deny being blind
of a six-year-old child with Anton syndrome and early stages of adrenoleukodystrophy. The child reportedly had abnormal eye movements, would often fall
Anton_syndrome
American medical researcher born in Bern, Switzerland (1924–2007)
keep on doing it". This principle later influenced his work on adrenoleukodystrophy (ALD). After two years of residency at the Peter Bent Brigham Hospital
Hugo_Moser_(scientist)
Congenital disorder of nervous system
biogenesis disorders (PBD-ZSD). The other two disorders are neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). Although all have a similar
Zellweger_syndrome
Sex chromosome present in both sexes in the XY and X0 sex-determination systems
explain x-linked disorders in humans, e.g., haemophilia A and B, adrenoleukodystrophy, and red-green color blindness. XX male syndrome is a rare disorder
X_chromosome
Fatty acid with 22 or more carbons
metabolized in peroxisomes. Certain peroxisomal disorders, such as adrenoleukodystrophy and Zellweger syndrome, can be associated with an accumulation of
Very_long_chain_fatty_acid
Chemical compound
designated as an orphan drug by the FDA for the treatment of X-linked adrenoleukodystrophy. Lammel Lindemann, Jan; Webb, Paul (2016). "Sobetirome: the past
Sobetirome
Protein-coding gene in humans
transporters. Mutations in this gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as
ABCD2
Medical condition
continuum of disorders including infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. Collectively, PBDs are autosomal recessive
Peroxisomal_disorder
Medical technology
congenital amaurosis and choroideremia, X-linked SCID, ADA-SCID, adrenoleukodystrophy, chronic lymphocytic leukemia (CLL), acute lymphocytic leukemia (ALL)
Gene_therapy
Chemical compound
long chain fatty acid that is often associated with the disease adrenoleukodystrophy, which involves the excessive accumulation of unmetabolized fatty
Cerotic_acid
Hospital in Maryland, United States
of an enrolled participant was awarded $1.84 million in damages. Adrenoleukodystrophy (ALD) is a rare genetic disorder of the brain that occurs only in
Kennedy_Krieger_Institute
Group of neurodegenerative conditions
such as Leigh syndrome and peroxisomal disorders such as X-linked adrenoleukodystrophy. Two-thirds of the cases can be attributed to inborn errors of metabolism
Childhood_dementia
Pituitary hormone
ACTH producing pituitary after the removal of both adrenal glands Adrenoleukodystrophy, can be accompanied by adrenal insufficiency West syndrome ("infantile
Adrenocorticotropic_hormone
Protein-coding gene in the species Homo sapiens
with complementation group 1 peroxisomal disorders such as neonatal adrenoleukodystrophy, infantile Refsum disease, and Zellweger syndrome. PEX1 has been
PEX1
American biochemist
specializing in neurology. She researches the development of therapies for adrenoleukodystrophy. Moser is an associate professor emerita in neurology at the Johns
Ann_B._Moser
Musical artist (1959-1996)
Corpus, was released posthumously in 1997. Santa María died of adrenoleukodystrophy in 1996 in Lausanne. "Sebastian Santa Maria | Composer, Soundtrack"
Sebastián_Santa_María
American pharmaceutical company
gene therapy for the treatment of sickle cell disease and cerebral adrenoleukodystrophy. It is also developing T cell product candidates to treat acute myeloid
Bluebird_bio
Surname list
of Genoa and king of Corsica Lorenzo Odone (1978–2008), American adrenoleukodystrophy (ALD) patient whose parents sought a treatment for the disease Odone
Odone
Brain and spinal cord
Huntington's disease, as well as amyotrophic lateral sclerosis and adrenoleukodystrophy. Lastly, cancers of the central nervous system can cause severe illness
Central_nervous_system
Chemical compound
potential of deuterium-stabilized (R)-pioglitazone-PXL065-for X-linked adrenoleukodystrophy". Journal of Inherited Metabolic Disease. 45 (4): 832–847. doi:10
Pioglitazone
amino acids, carbohydrates, and lipids. Acute intermittent porphyria Adrenoleukodystrophy (Schilder's disease) Alkaptonuria Aminolevulinic acid dehydratase
List_of_skin_conditions
Name list
archer Michaela Odone (1939–2000), jointly discovered a treatment for adrenoleukodystrophy (ALD) Michaela Paštiková (born 1980), Czech tennis player Michaela
Michaela
Adrenocortical carcinoma Adrenogenital syndrome Adrenoleukodystrophy, autosomal, neonatal form Adrenoleukodystrophy, X-linked Adrenomyodystrophy Adult attention
List_of_diseases_(A)
Sarandon Michaela Odone Zack O'Malley-Greenburg as Lorenzo Odone (Adrenoleukodystrophy) Best Lead Actress 1992 Nominated Love Story Ryan O'Neal Oliver Barrett
List of actors nominated for Academy Awards for performances of the disabled
List_of_actors_nominated_for_Academy_Awards_for_performances_of_the_disabled
American professional wrestler (born 1997)
brother, Wyatt died in 2017. Wyatt had the rare genetic condition adrenoleukodystrophy (ALD) and was killed when the Lyft vehicle he was riding in crashed
Maxxine_Dupri
forms 1:500-50,000 Adenylosuccinate lyase deficiency ADSL recessive Adrenoleukodystrophy ABCD1 (X) recessive 1:17,000 Alagille syndrome JAG1, NOTCH2 dominant
List_of_genetic_disorders
American non-profit organization
Friends communities: AVM Trigeminal neuralgia Ataxia International Adrenoleukodystrophy (ALD) Fibromyalgia Brain aneurysm Orn, Scott (2013-03-18). "Deliver
Ben's_Friends
Medical research and advocacy organization
and their friend Patti Chapman. Their son, Lorenzo, suffered from adrenoleukodystrophy (ALD), the most common of the leukodystrophies. The story of the
The_Myelin_Project
American politician (born 1965)
screening for severe combined immunodeficiency syndrome (AB395 in 2011), adrenoleukodystrophy (AB1559 in 2014) and all conditions recommended by the federal DHHS
Richard_Pan
Chemical compound
leriglitazone. Leriglitazone was intended for the treatment of cerebral adrenoleukodystrophy. Musokhranova, Uliana; Grau, Cristina; Vergara, Cristina; Rodríguez-Pascau
Leriglitazone
Topics referred to by the same term
Lorenzo's Oil, a film based on a true story about a boy suffering from Adrenoleukodystrophy and his parents' journey to find a treatment. Lorenzo's Time, a 2012
Lorenzo
Protein-coding gene in the species Homo sapiens
Moriya-Sato A, et al. (Dec 2000). "Novel acyl-CoA synthetase in adrenoleukodystrophy target tissues". Biochem Biophys Res Commun. 279 (1): 62–8. Bibcode:2000BBRC
ACSBG1
Season of television series
help Joi, the exhausted mother of a little boy named Ricky who has Adrenoleukodystrophy. Carter is jealous when Lucy goes on a date with Dale. 103 12 "Double
ER_season_5
British chemicals company
1990, it developed Lorenzo's oil, a product famously used to treat adrenoleukodystrophy. In July 1997, Croda acquired the Paris-based STOA Group for $66
Croda_International
Protein-coding gene in the species Homo sapiens
hydrogen peroxide. Defects in this gene result in pseudoneonatal adrenoleukodystrophy, a disease that is characterized by accumulation of very long chain
ACOX1
Chemical compound
has demonstrated preclinical efficacy for both NASH and X-linked adrenoleukodystrophy (X-ALD). In 2022, it successfully completed a 9 month Phase 2 trial
PXL065
Class of enzymes
fatty acyl-CoAs causes the downregulation of FAS mRNA by vitamin D3. Adrenoleukodystrophy (ALD) is the build up of long chain fatty acids in the brain and
Long-chain-fatty-acid—CoA ligase
Long-chain-fatty-acid—CoA_ligase
Xk aprosencephaly X-linked adrenal hypoplasia congenita X-linked adrenoleukodystrophy X-linked agammaglobulinemia X-linked alpha thalassemia mental retardation
List_of_diseases_(X)
Class of chemical compounds
impaired in several inherited human peroxisomal disorders, including adrenoleukodystrophy and Sjögren–Larsson syndrome. Fatty alcohols are relatively benign
Fatty_alcohol
Japanese manga artist
the series' 6-year run. He spent time with a fan diagnosed with adrenoleukodystrophy, eating together and gifting an autograph. Sawai's art style is a
Yoshio_Sawai
Mode of inheritance
below are some notable ones, with short description of symptoms: Adrenoleukodystrophy; leads to progressive brain damage, failure of the adrenal glands
X-linked recessive inheritance
X-linked_recessive_inheritance
Protein-coding gene in the species Homo sapiens
Zellweger Syndrome spectrum, infantile Refsum disease, and neonatal adrenoleukodystrophy. These genetic diseases are autosomal recessive and occur in 1 of
PEX6
1978–2008), noted for the creation of Lorenzo's oil as a treatment to Adrenoleukodystrophy after his son, Lorenzo, was diagnosed with the rare and deadly disease
List_of_people_from_Italy
Protein-coding gene in the species Homo sapiens
another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis
ABCD4
dystrophy Elivaldogene autotemcel (Skysona): treatment for cerebral adrenoleukodystrophy Etranacogene dezaparvovec (Hemgenix): AAV-based treatment for hemophilia
List_of_gene_therapies
Topics referred to by the same term
for a protein necessary for efficient absorption of vitamin B12 Adrenoleukodystrophy, a rare X-linked genetic disease AMN (TV station), in Griffith, New
AMN
Acronyms Diseases and disorders X-ALD X-linked adrenoleukodystrophy X-CALD X-linked cerebral adrenoleukodystrophy XDH and AOX dual deficiency Xanthine dehydrogenase
List of abbreviations for diseases and disorders
List_of_abbreviations_for_diseases_and_disorders
Topics referred to by the same term
(film director), Argentine film producer Hugo Moser (scientist), adrenoleukodystrophy researcher Moser (surname) This disambiguation page lists articles
Hugo_Moser
Topics referred to by the same term
NALD may refer to: Neonatal adrenoleukodystrophy Non-alcoholic liver disease PEX10, peroxisome gene PEX13, peroxisome gene This disambiguation page lists
NALD
Topics referred to by the same term
International, Inc. NASDAQ symbol since 2003 of CallidusCloud Cerebral adrenoleukodystrophy, a rare inherited genetic disorder Caldesmon, protein encoded by
CALD
Medical condition
leukoencephalopathy with subcortical cysts metachromatic leukodystrophy X-linked adrenoleukodystrophy "Hereditary Central Nervous System Demyelinating Diseases - Genetics
Hereditary CNS demyelinating disease
Hereditary_CNS_demyelinating_disease
Diseases of the brain and spinal cord
metabolic demyelination (Leukodystrophy and its sub-conditions, Adrenoleukodystrophy and Adrenomyeloneuropathy ), hypoxic–ischaemic forms of demyelination
Lesional demyelinations of the central nervous system
Lesional_demyelinations_of_the_central_nervous_system
German neurologist and neuropathologist
involving the cerebral cortex, the basal ganglia and the spinal cord. Adrenoleukodystrophy, a rare demyelination disorder also known as Siemerling-Creutzfeldt
Hans_Gerhard_Creutzfeldt
Adrenoleukodystrophy; 300100; ABCD1 Adrenoleukodystrophy, neonatal; 202370; PEX1 Adrenoleukodystrophy, neonatal; 202370; PEX10 Adrenoleukodystrophy,
List_of_OMIM_disorder_codes
Topics referred to by the same term
ald in Wiktionary, the free dictionary. ALD or Ald may refer to: Adrenoleukodystrophy, a disease linked to the X chromosome Alcoholic liver disease Aldolase
ALD
Wide-based "drunken sailor" gait symptom
Friedreich's ataxia Drugs such as Benzodiazepines, Lithium, Phenytoin Adrenoleukodystrophy Ataxia oculomotor apraxia type 1 Branchial myoclonus Christianson
Truncal_ataxia
Inactivation of copies of X chromosome
present minor symptoms of a given disorder, such as with X-linked adrenoleukodystrophy. The differentiation of phenotype in heterozygous females is furthered
X-inactivation
Gene family
causally related to diseases present in humans such as cystic fibrosis, adrenoleukodystrophy, Stargardt disease, drug-resistant tumors, Dubin–Johnson syndrome
ABC_transporter
German neurologist and psychiatrist
In 1923, with Hans Gerhard Creutzfeldt (1885-1964), he described adrenoleukodystrophy (ALD), a rare disorder that is sometimes referred to as "Siemerling-Creutzfeldt
Ernst_Siemerling
Type of organelle
well as many other organ systems. Two common examples are X-linked adrenoleukodystrophy and the peroxisome biogenesis disorders. PEX genes encode the protein
Peroxisome
Austrian neurologist and psychiatrist
his name: Addison-Schilder syndrome, Schilder-Addison Complex or Adrenoleukodystrophy Schilder's disease or diffuse myelinoclastic sclerosis, a variant
Paul_Ferdinand_Schilder
Sphingolipidoses Niemann–Pick disease Gaucher disease Leukodystrophies Adrenoleukodystrophy Metachromatic leukodystrophy Krabbe disease (globoid cell leukodystrophy)
List of conditions treated with hematopoietic stem cell transplantation
List_of_conditions_treated_with_hematopoietic_stem_cell_transplantation
Group of rare genetic disorders
are hyperpipecolic acidemia, infantile Refsum disease, neonatal adrenoleukodystrophy, and Zellweger syndrome. It can also be referred to as peroxisomal
Zellweger_spectrum_disorders
Andersen, Marianne (2013). "Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female". Case Reports in Neurological Medicine. 2013 491790
Obligate_carrier
Chemical compound
peroxisomes: Impaired oxidation in Zellweger syndrome and X-linked adrenoleukodystrophy" (PDF). Journal of Lipid Research. 39 (11): 2161–71. doi:10
Nervonic_acid
an alternative medicine for a rare neurological disease called adrenoleukodystrophy (ALD) that was featured in the 1992 movie Lorenzo's Oil. Nutricia
Nutricia_North_America
Protein-coding gene in the species Homo sapiens
spectrum of peroxisomal biogenesis disorders, ranging from neonatal adrenoleukodystrophy to Zellweger syndrome. PEX10 has been shown to interact with PEX12
PEX10
Swiss scientist (1919–2001)
(1957) pseudo-vitamin D deficiency with R. Illig et al. (1961) Adrenoleukodystrophy, (ALD). In 1963, Andrea Prader participated in a research effort
Andrea_Prader
Sex-specific patterns of inheritance
color-blind (1/20)*(1/20). Examples include: Aarskog–Scott syndrome Adrenoleukodystrophy Bruton's agammaglobulinemia Color blindness Complete androgen insensitivity
Sex_linkage
are hyperpipecolic acidemia, Infantile Refsum disease, neonatal adrenoleukodystrophy (NALD), and Zellweger syndrome. It can also be referred to as Peroxisomal
Glossary_of_medicine
French medical doctor
Jean-Louis Mandel has also identified the genes responsible for adrenoleukodystrophy, with Patrick Aubourg (Mosser et al, Nature, 1993), ataxia with isolated
Jean-Louis_Mandel
Protein-coding gene in the species Homo sapiens
is in part responsible for the biochemical pathology in X-linked adrenoleukodystrophy. Solute carrier family GRCh38: Ensembl release 89: ENSG00000140284
SLC27A2
Pediatrician, clinical professor
neurodegenerative diseases including metachromatic leukodystrophy, adrenoleukodystrophy, and mucopolysaccharidosis disorders. Clinic visits typically include
Maria_Luisa_Escolar
Topics referred to by the same term
may refer to two different diseases described by Paul Schilder: Adrenoleukodystrophy Diffuse myelinoclastic sclerosis This disambiguation page lists articles
Schilder's_disease
Jake Johnson, actor and comedian May 29 – Lorenzo Odone, American adrenoleukodystrophy patient (d. 2008) May 31 – Eli Bremer, Olympic pentathlete June 1
1978_in_the_United_States
Protein-coding gene in the species Homo sapiens
Muntau AC, Holzinger A, Gerber JK, et al. (April 2000). "Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the
ABCD3
Medical condition
misdiagnosed as similar conditions such as Usher syndrome and neonatal adrenoleukodystrophy. There are no cures for ACOX1 deficiency, supportive care is used
Acyl-CoA_oxidase_deficiency
American baseball umpire (born 1954)
personality had become extremely bitter since one son had died from adrenoleukodystrophy (ALD) and another son had been diagnosed with it. Having heard Alomar's
John_Hirschbeck
Protein-coding gene in humans
(DXS1357E) with ubiquitous expression, located in Xq28 adjacent to the adrenoleukodystrophy gene". Genomics. 22 (2): 469–471. doi:10.1006/geno.1994.1413. PMID 7806238
BCAP31
Augusto Odone, (1933-2013) inventor of Lorenzo's oil, a treatment for Adrenoleukodystrophy. List of southern Italians Born in Bruneck from Roman parents. Baccio
List of people from Central Italy
List_of_people_from_Central_Italy
Type of membrane transport proteins
congenital chloroidorrhea AE3, SLC4A3 congenital chloroidorrhea ALDR Adrenoleukodystrophy ANK ankylosis (calcification); arthritis accompanied by mineral deposition
Cotransporter
demyelinating diseases. Some of them are not-inflammatory, such as adrenoleukodystrophy, vanishing white matter disease, and Rubella induced intellectual
Myelin oligodendrocyte glycoprotein
Myelin_oligodendrocyte_glycoprotein
Medical condition
(MLD), Krabbe disease (globoid cell leukodystrophy), and X-linked adrenoleukodystrophy (X-ADL). Many neuropsychiatric symptoms have been identified in clinical
Hereditary diffuse leukoencephalopathy with spheroids
Hereditary_diffuse_leukoencephalopathy_with_spheroids
Medical emergency due to insufficient steroid production
or congenital disorders such as congenital adrenal hyperplasia, adrenoleukodystrophy, familial glucocorticoid deficiency, combined pituitary hormone deficiency
Adrenal_crisis
Neurodegenerative disorder
"Schilder's disease" has been used to describe conditions as disparate as adrenoleukodystrophy, myelinoclastic diffuse sclerosis... The eponymic designation should
Spongy degeneration of the central nervous system
Spongy_degeneration_of_the_central_nervous_system
Medical condition
The other two disorders are Zellweger syndrome (ZS) and neonatal adrenoleukodystrophy (NALD). Although they share a similar molecular basis for disease
Infantile_Refsum_disease
2012 British film
terminally ill McCauley Riley, a boy from Blackburn living with Adrenoleukodystrophy (ALD). Another charity to benefit from the Premiere was the Glove
Tash_Force
American journalist and author (born c. 1970)
the family of baseball umpire John Hirschbeck, whose son died of adrenoleukodystrophy (ALD) in 1993 at age 8. The Pulitzer citation stated the award was
Lisa_Pollak
ADRENOLEUKODYSTROPHY
ADRENOLEUKODYSTROPHY
ADRENOLEUKODYSTROPHY
ADRENOLEUKODYSTROPHY
Surname or Lastname
English (East Anglia)
English (East Anglia) : unexplained. Perhaps a variant of Rump.German : variant of Rump 3.
Surname or Lastname
English
English : variant spelling of Rountree.
Girl/Female
Indian
Intelligent
Male
Vietnamese
Vietnamese name TUAN means "intelligent."
Boy/Male
Assamese, Bengali, Hindu, Indian, Marathi, Sanskrit, Telugu
Patience; Devoted to What is Right; Strong
Surname or Lastname
English
English : patronymic from Ralph.
Girl/Female
Indian
Moral; Faithful
Boy/Male
Shakespearean Welsh
King Henry IV, Part 1' Edmund Mortimer, Earl of March. 'King Henry the Sixth, Part III' Edward,...
Boy/Male
American, British, English
Good Friend
Boy/Male
Hindu, Indian
Worship; Respected
ADRENOLEUKODYSTROPHY
ADRENOLEUKODYSTROPHY
ADRENOLEUKODYSTROPHY
ADRENOLEUKODYSTROPHY
ADRENOLEUKODYSTROPHY