E71.511
Neonatal adrenoleukodystrophy
Clinical Classification Guidelines
Excludes Type 1
- X-linked adrenoleukodystrophy (E71.42-)
Medical Intelligence & Overview
Neonatal adrenoleukodystrophy (NALD) is a rare genetic disorder that affects newborns, leading to a progressive loss of brain function and problems with the adrenal glands. It belongs to a group of disorders called leukodystrophies, which are characterized by the deterioration of the white matter in the brain. This condition is caused by mutations in a specific gene that impacts the body's ability to break down certain fatty acids. Early diagnosis and management are important, although there is currently no cure for NALD.
Causes & Symptoms
Clinical Causes: Genetic mutations in the ABCD1 gene, which is responsible for producing a protein involved in the breakdown of very long chain fatty acids (VLCFAs). Inheritance pattern is autosomal recessive, meaning a child must inherit two copies of the mutated gene—one from each parent—to develop the condition. No known environmental or lifestyle factors influence the development of NALD.
Key Symptoms: Seizures that begin in infancy Hypotonia (reduced muscle tone), leading to poor muscle strength and delayed motor development Progressive neurological decline, including loss of developmental milestones Feeding difficulties and poor weight gain Hearing or visual impairments as the disease advances Enlarged adrenal glands (adrenal insufficiency), which may cause fatigue, muscle weakness, and low blood pressure Regression of previously acquired skills such as crawling, walking, or speech
Diagnostic & Treatment
Diagnosis Path: Diagnosis of neonatal adrenoleukodystrophy typically involves several steps:
Treatment Protocols: Currently, there is no cure for neonatal adrenoleukodystrophy, but management focuses on alleviating symptoms and improving quality of life:
Clinical Advice & FAQs
Billing Guidance
Is E71.511 a billable ICD-10 code?
Yes, E71.511 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E71.511?
Clinical documentation must specify the nature of Neonatal adrenoleukodystrophy and any associated comorbidities for accurate reporting.
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