Neonatal adrenoleukodystrophy
ICD-10 E71.511 is a billable code used to indicate a diagnosis of neonatal adrenoleukodystrophy.
Neonatal adrenoleukodystrophy (NALD) is a rare genetic disorder characterized by the accumulation of very long-chain fatty acids (VLCFAs) in the body due to a deficiency in the enzyme adrenoleukodystrophy protein (ALDP). This condition primarily affects the adrenal glands and the nervous system, leading to progressive neurological decline and adrenal insufficiency. Symptoms typically manifest in the first few months of life and may include developmental delays, seizures, hypotonia, and loss of motor skills. The disorder is linked to mutations in the ABCD1 gene located on the X chromosome, which is responsible for the transport of VLCFAs into peroxisomes for degradation. Early diagnosis through newborn screening and genetic testing is crucial for management, as treatment options may include dietary interventions, hormone replacement therapy, and experimental therapies. The prognosis varies, with some infants experiencing rapid deterioration while others may have a more indolent course. Understanding the metabolic pathways involved in VLCFA metabolism is essential for healthcare providers managing affected infants.
Detailed history of developmental milestones, family history of metabolic disorders, and results of newborn screening.
Infants presenting with developmental delays, seizures, or adrenal insufficiency.
Ensure that all symptoms and laboratory findings are documented to support the diagnosis.
Genetic testing results, family pedigree, and detailed clinical evaluation.
Families with a history of metabolic disorders seeking genetic counseling.
Documentation must clearly outline the genetic basis of the condition and any implications for family members.
Used when confirming a diagnosis of neonatal adrenoleukodystrophy.
Documentation of clinical suspicion and family history.
Genetic counseling may be necessary for families.
Neonatal adrenoleukodystrophy is primarily caused by mutations in the ABCD1 gene, which leads to a deficiency in the enzyme responsible for the breakdown of very long-chain fatty acids.
