BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuAdrenoleukodystrophyX-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison ComplexAdrenoleukodystrophy (ALD) describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are often passed down (inherited) in families. Causes ALD is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males. Some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.X-linked genetic traitGenetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, ski...ImageRead Article Now Book Mark Article Some cases of ALD occur when the gene changes on its own. This is called sporadic and is not inherited.The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes. This disrupts normal activity in these parts of the body. There are three major categories of disease:Childhood cerebral form -- appears in mid-childhood (at ages 4 to 8) Adrenomyelopathy -- occurs in men in their 20s or later in life Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormonesAddison diseaseAddison disease is a disorder that causes the adrenal glands to not produce enough hormones.ImageRead Article Now Book Mark Article Symptoms Childhood cerebral type symptoms include:Changes in muscle tone, especially muscle spasms and uncontrolled movements Crossed eyes Crossed eyesStrabismus is a disorder in which both eyes do not line up in the same direction. Therefore, they do not look at the same object at the same time. ...ImageRead Article Now Book Mark Article Handwriting that gets worse Difficulty at school Difficulty understanding what people are saying Hearing loss Hyperactivity HyperactivityHyperactivity means having increased movement, impulsive actions, a shorter attention span, and being easily distracted.ImageRead Article Now Book Mark Article Worsening nervous system damage, including coma, decreased fine motor control, and paralysis Seizures SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Swallowing difficulties Visual impairment or blindnessAdrenomyelopathy symptoms include:Difficulty controlling urination Possible worsening muscle weakness or leg stiffness Problems with thinking speed and visual memoryAdrenal gland failure (Addison type) symptoms include:Coma Decreased appetite Increased skin color Loss of weight and muscle mass (wasting) Muscle weakness Vomiting Exams and Tests In most states, children will be screened for ALD as part of newborn screening tests. This is done with a heel stick to draw blood (as part of the routine screenings done on newborns). Newborn screening does not diagnose the condition, but it can help lead to early testing and diagnosis.Tests for this condition include:Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland Chromosome study to look for changes in the ABCD1 gene that may make the person more likely to develop a disease ChromosomeChromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the bu...ImageRead Article Now Book Mark Article MRI of the head MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article Skin biopsySkin biopsyA skin lesion biopsy is when a small amount of skin is removed so it can be examined under a microscope. The skin is tested to look for skin conditi...ImageRead Article Now Book Mark Article Treatment Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.A specific treatment for X-linked ALD is not available. A bone marrow transplant may stop worsening of the condition.Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life. Support Groups More information and support for people with ALD and their families can be found at:National Organization for Rare Disorders -- rarediseases.org/rare-diseases/adrenoleukodystrophy/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy Outlook (Prognosis) The childhood form of X-linked ALD is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs.The other forms of this disease are milder. Possible Complications These complications can occur:Adrenal crisis Vegetative state When to Contact a Medical Professional Contact your health care provider if:Your child develops symptoms of X-linked ALD Your child has X-linked ALD and is getting worse Prevention Genetic counseling is recommended for couples with a family history of X-linked ALD. Mothers of affected sons have an 85% chance of being a carrier for this condition.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Prenatal diagnosis of X-linked ALD is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.ImageRead Article Now Book Mark Article AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...ImageRead Article Now Book Mark Article Open ReferencesReferencesJames WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Errors in metabolism. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 26.Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 29.Wangler MF. Defects in metabolism of lipids./Disorders of very-long-chain fatty acids and other peroxisomal functions. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 106.2.AllVideoImagesTogNeonatal adrenoleukodystrophy - illustration NALD is an inheritable disorder that affects multiple organs, including the adrenal glands and the white matter of the brain. Some of the symptoms for this disorder include seizures, hyperactivity, crossed eyes, paralysis, hearing loss, and muscular weakness.Neonatal adrenoleukodystrophyillustrationAdrenal glands - illustration Triangular-shaped glands located on top of the kidneys. They produce steroid hormones such as aldosterone, cortisol, and precursor sex steroids that can be converted into estrogen and testosterone. They also produce the hormones adrenalin (epinephrine) and noradrenalin (norepinephrine). Adrenal glandsillustrationNeonatal adrenoleukodystrophy - illustration NALD is an inheritable disorder that affects multiple organs, including the adrenal glands and the white matter of the brain. Some of the symptoms for this disorder include seizures, hyperactivity, crossed eyes, paralysis, hearing loss, and muscular weakness.Neonatal adrenoleukodystrophyillustrationAdrenal glands - illustration Triangular-shaped glands located on top of the kidneys. They produce steroid hormones such as aldosterone, cortisol, and precursor sex steroids that can be converted into estrogen and testosterone. They also produce the hormones adrenalin (epinephrine) and noradrenalin (norepinephrine). Adrenal glandsillustrationRelated Information Metabolism(Special Topic)Adrenal glands(Special Topic)Testes(Special Topic)Genetics(Special Topic)Hyperactivity(Symptoms)Strabismus(Condition)Seizures(Symptoms)White matter of the brain(Special Topic)Contracture deformity(Symptoms)Decreased alertness(Symptoms)Attention deficit hyperactivity disorder - InDepth(In-Depth) Review Date: 12/31/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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AdrenoleukodystrophyX-linked Adrenoleukodystrophy; Adrenomyeloneuropathy; Childhood cerebral adrenoleukodystrophy; ALD; Schilder-Addison ComplexAdrenoleukodystrophy (ALD) describes several closely related disorders that disrupt the breakdown of certain fats. These disorders are often passed down (inherited) in families. Causes ALD is usually passed down from parent to child as an X-linked genetic trait. It affects mostly males. Some women who are carriers can have milder forms of the disease. It affects about 1 in 20,000 people from all races.X-linked genetic traitGenetics is the study of heredity, the process of a parent passing certain genes to their children. A person's appearance -- height, hair color, ski...ImageRead Article Now Book Mark Article Some cases of ALD occur when the gene changes on its own. This is called sporadic and is not inherited.The condition results in the buildup of very-long-chain fatty acids in the nervous system, adrenal gland, and testes. This disrupts normal activity in these parts of the body. There are three major categories of disease:Childhood cerebral form -- appears in mid-childhood (at ages 4 to 8) Adrenomyelopathy -- occurs in men in their 20s or later in life Impaired adrenal gland function (called Addison disease or Addison-like phenotype) -- adrenal gland does not produce enough steroid hormonesAddison diseaseAddison disease is a disorder that causes the adrenal glands to not produce enough hormones.ImageRead Article Now Book Mark Article Symptoms Childhood cerebral type symptoms include:Changes in muscle tone, especially muscle spasms and uncontrolled movements Crossed eyes Crossed eyesStrabismus is a disorder in which both eyes do not line up in the same direction. Therefore, they do not look at the same object at the same time. ...ImageRead Article Now Book Mark Article Handwriting that gets worse Difficulty at school Difficulty understanding what people are saying Hearing loss Hyperactivity HyperactivityHyperactivity means having increased movement, impulsive actions, a shorter attention span, and being easily distracted.ImageRead Article Now Book Mark Article Worsening nervous system damage, including coma, decreased fine motor control, and paralysis Seizures SeizuresA seizure is the physical changes in behavior that occurs during an episode of specific types of abnormal electrical activity in the brain. The term ...ImageRead Article Now Book Mark Article Swallowing difficulties Visual impairment or blindnessAdrenomyelopathy symptoms include:Difficulty controlling urination Possible worsening muscle weakness or leg stiffness Problems with thinking speed and visual memoryAdrenal gland failure (Addison type) symptoms include:Coma Decreased appetite Increased skin color Loss of weight and muscle mass (wasting) Muscle weakness Vomiting Exams and Tests In most states, children will be screened for ALD as part of newborn screening tests. This is done with a heel stick to draw blood (as part of the routine screenings done on newborns). Newborn screening does not diagnose the condition, but it can help lead to early testing and diagnosis.Tests for this condition include:Blood levels of very long chain fatty acids and hormones that are produced by the adrenal gland Chromosome study to look for changes in the ABCD1 gene that may make the person more likely to develop a disease ChromosomeChromosomes are structures found in the center (nucleus) of cells that carry long pieces of DNA. DNA is the material that holds genes. It is the bu...ImageRead Article Now Book Mark Article MRI of the head MRI of the headA head MRI (magnetic resonance imaging) is an imaging test that uses powerful magnets and radio waves to create pictures of the brain and surrounding...ImageRead Article Now Book Mark Article Skin biopsySkin biopsyA skin lesion biopsy is when a small amount of skin is removed so it can be examined under a microscope. The skin is tested to look for skin conditi...ImageRead Article Now Book Mark Article Treatment Adrenal dysfunction may be treated with steroids (such as cortisol) if the adrenal gland is not producing enough hormones.A specific treatment for X-linked ALD is not available. A bone marrow transplant may stop worsening of the condition.Supportive care and careful monitoring of impaired adrenal gland function may help in improving comfort and quality of life. Support Groups More information and support for people with ALD and their families can be found at:National Organization for Rare Disorders -- rarediseases.org/rare-diseases/adrenoleukodystrophy/ NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5758/x-linked-adrenoleukodystrophy Outlook (Prognosis) The childhood form of X-linked ALD is a progressive disease. It leads to a long-term coma (vegetative state) about 2 years after nervous system symptoms develop. The child can live in this condition for as long as 10 years until death occurs.The other forms of this disease are milder. Possible Complications These complications can occur:Adrenal crisis Vegetative state When to Contact a Medical Professional Contact your health care provider if:Your child develops symptoms of X-linked ALD Your child has X-linked ALD and is getting worse Prevention Genetic counseling is recommended for couples with a family history of X-linked ALD. Mothers of affected sons have an 85% chance of being a carrier for this condition.Genetic counselingGenetics is the study of heredity, the process of a parent passing certain genes on to their children. A person's appearance, such as height, hair co...ImageRead Article Now Book Mark Article Prenatal diagnosis of X-linked ALD is also available. It is done by testing cells from chorionic villus sampling or amniocentesis. These tests look for either a known genetic change in the family or for very long chain fatty acid levels.Chorionic villus samplingChorionic villus sampling (CVS) is a test some pregnant women have to screen their baby for genetic problems.ImageRead Article Now Book Mark Article AmniocentesisAmniocentesis is a test that can be done during pregnancy to look for certain problems in the developing baby. These problems include:Birth defectsG...ImageRead Article Now Book Mark Article Open ReferencesReferencesJames WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM. Errors in metabolism. In: James WD, Elston DM, Treat JR, Rosenbach MA, Neuhaus IM, eds. Andrews' Diseases of the Skin: Clinical Dermatology. 13th ed. Philadelphia, PA: Elsevier; 2020:chap 26.Lissauer T, Carroll W. Neurological disorders. In: Lissauer T, Carroll W, eds. Illustrated Textbook of Paediatrics. 6th ed. Philadelphia, PA: Elsevier; 2022:chap 29.Wangler MF. Defects in metabolism of lipids./Disorders of very-long-chain fatty acids and other peroxisomal functions. In: Kliegman RM, St. Geme JW, Blum NJ, et al, eds. Nelson Textbook of Pediatrics. 22nd ed. Philadelphia, PA: Elsevier; 2025:chap 106.2.