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X-ALD - X-linked Adrenoleukodystrophy - Condition Details

X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder that occurs primarily in males. It mainly affects the nervous system and the adrenal glands, which are small glands located on top of each kidney. In this disorder, the fatty covering (myelin) that insulates nerves in the brain and spinal cord is prone to deterioration (demyelination), which reduces the ability of the nerves to relay information to the brain. In addition, damage to the outer layer of the adrenal glands (adrenal cortex) causes a shortage of certain hormones (adrenocortical insufficiency). Adrenocortical insufficiency may cause weakness, weight loss, skin changes, vomiting, and coma. Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting certain fat molecules called very long-chain fatty acids (VLCFAs) into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules, including VLCFAs.ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the transport and subsequent breakdown of VLCFAs is disrupted, causing abnormally high levels of these fats in the body. The accumulation of VLCFAs may be toxic to the adrenal cortex and myelin. Research suggests that the accumulation of VLCFAs triggers an inflammatory response in the brain, which could lead to the breakdown of myelin. The destruction of these tissues leads to the signs and symptoms of X-linked adrenoleukodystrophy.

Names and Codes

Condition:1X-linked Adrenoleukodystrophy
Abbreviation:1X-ALD
Category:2Core
SNOMED CT Code:3
65389002Adrenoleukodystrophy disorder
UMLS CUI:4C0162309
ICD-9-CM Code:5
277.9Peroxisomal disorders
ICD-10-CM Code:6
E71.522Adrenomyeloneuropathy
E71.520Childhood cerebral X-linked adrenoleukodystrophy
E71.528Other X-linked adrenoleukodystrophy
E71.529X-linked adrenoleukodystrophy unspecified type

Affected Protein Names and Codes

Enzyme Commission Number:7
N/A
UniProt Number:8
P33897External Web Site PolicyATP-binding cassette sub-family D member 1

Analytes or Measurements

These measurements are associated with the condition:

LOINC Long Common Name9Analyte
Short Name10
LOINC
Number11
Units12
ABCD1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalABCD179568-2Answer list
Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spotC26:0-LPC79321-6umol/L
Lysophosphatidylcholine(26:0) [Moles/volume] in Dried blood spot by LC/MS/MSC26:0-LPC-HPLC79567-4umol/L

More Information

Additional information is available from Genetics Home Reference13 and from the Online Mendelian Inheritance in Man (OMIM®)14:

Legend

1

Condition Name and Abbreviation — curated by the NLM and selected from among the names used by the Advisory Committee on Heritable Disorders in Newborns and Children (Committee), National Newborn Screening Information System (NNSIS), the American College of Medical Genetics (ACMG), the HHS Office of the National Coordinator for Health Information Technology (ONC)/American Health Information Community (AHIC) Personalized Health Care Work Group, and input from the newborn screening community.

2

Category — based on the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel. Conditions designated as "core" should be included in every newborn screening program, and "secondary" conditions are some of the disorders that may be detected during screening for a core disorder. Conditions classified as "other" are those that are screened for by some states but are not part of the Recommended Uniform Screening Panel.

3

SNOMED CT® CodeSystematized Nomenclature of Medicine — Clinical Terms code is assigned by the International Health Terminology Standards Development Organisation (IHTSDO). SNOMED CT is a concept-oriented clinical terminology that has been designated as a U.S. standard for electronic health information exchange. The Newborn Screening Coding and Terminology Guide uses some codes from the US Extension to SNOMED CT.

4

UMLS CUI — a concept unique identifier (CUI) assigned to every concept in the Unified Medical Language System (UMLS®).

5

ICD-9-CM CodeInternational Classification of Diseases, Ninth Revision, Clinical Modification code is assigned to diagnoses associated with hospital utilization in the U.S. It is a current US standard for use in administrative healthcare transactions. Although ICD-9-CM codes are fairly specific, in certain cases, the same ICD-9-CM code might apply to several disorders in the same group (e.g. amino acid disorders).

6

ICD-10-CM CodeInternational Classification of Diseases, Tenth Revision, Clinical Modification code. Although ICD-10-CM codes are fairly specific, in certain cases, the same ICD-10-CM code might apply to multiple related disorders.

7

Enzyme Commission (EC) Number — a unique identifier for the affected enzyme (if the affected protein is an enzyme); the EC number is assigned by the Recommendations of the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology on the Nomenclature and Classification of Enzymes by the Reactions they CatalyseExternal Web Site Policy.

8

UniProt Number — a unique identifier assigned to all proteins, including enzymes, hemoglobin subunits, and immunoglobulin chains. The UniProt database is maintained by the Universal Protein ResourceExternal Web Site Policy, an international collaboration.

9

LOINC Long Common Name — derived by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee from the measurement's formal name by using conventional names for analytes and procedures. The long common name eliminates the parts of the formal name that are not needed to distinguish the test from related tests.

10

Analyte Short Name — an abbreviation for the analyte.

11

LOINC Number — the unique and permanent code assigned by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee to identify the test measurement. LOINC codes are unique for different test methods and different units of reporting to enable interoperability and comparison of results from different labs. LOINC is a U.S. government standard for electronic health information exchange of laboratory tests and other measurements in Interoperability Specifications produced by the Healthcare Information Technology Standards Panel (HITSP).

12

Units — what is being counted or measured, using the Unified Code for Units of MeasureExternal Web Site Policy (UCUM). Ratios whose units fully cancel each other are indicated by {Ratio}. UCUM is the US standard for reporting units in laboratory messages. Results that are not quantitative have either a link to the specific LOINC answer list for that analyte or appropriate text (such as "Pos or Neg" or "Specific alleles").

13

Genetics Home Reference — the National Library of Medicine's Web site for consumer-friendly information about genetic conditions and the genes or chromosomes related to those conditions. Visit Genetics Home Reference at http://ghr.nlm.nih.gov/.

14

OMIMOnline Mendelian Inheritance in Man®External Web Site Policy is a comprehensive resource about human genes and genetic diseases. It focuses primarily on the relationship between genotype and phenotype. It is currently maintained by Johns Hopkins University.

Record created: January 19, 2016