Neonatal adrenoleukodystrophy

Neonatal adrenoleukodystrophy is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal Disorders and that is characterized by Seizures from birth, diffuse encephalopathy, chorioretinopathy and optic Nerve dysplasia, sensorineural Hearing deficiency, peripheral Neuropathy, facial dysmorphism, Failure to thrive, severely delayed psychomotor Development and multiple biochemical abnormalities, including increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic Acid and bile Fluid trihydroxycoprostanic acid.

Additional Information

Neonatal adrenoleukodystrophy (NALD) is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders. It occurs in every 1 in 50,000 to 100,000 births, affects males and females equally and has an onset at Birth or early infancy. NALD is characterized by Seizures from birth, diffuse encephalopathy, chorioretinopathy and optic Nerve dysplasia, sensorineural Hearing deficiency, peripheral Neuropathy, facial dysmorphism, Failure to thrive, severely delayed psychomotor Development and multiple biochemical abnormalities, including increased plasma levels of very-long-chain fatty acids (VLCFA), phytanic Acid and bile Fluid trihydroxycoprostanic acid. Neurological regression is progressive. Moderate to severe hypotonia and hepatomegaly are present. Biological signs of Adrenal insufficiency are present in the majority of cases, Adrenal glands are severely atrophic, plasma basal adrenocorticotropic Hormone (ACTH) levels are markedly elevated. Hepatic peroxisomes are absent or significantly diminished. NALD is inherited in autosomal recessive manner. The responsible Genetic defect occurs in one of the Genes from the PEX gene Family (genes involved in peroxisomal formation or protein import). Disruption of PEX1-PEX6 interactions has been found as a common cause of Zellweger syndrome, NALD and infantile Refsum's disease, suggesting that these Diseases could be expressions of a disease continuum (see these terms). Diagnosis is made by demonstrating elevated Blood levels of VLCFA, phytanic acid, bile Acid intermediates, and pipecolic acid. The main differential diagnoses include Usher syndrome, other peroxysomal biogenesis defects, and all causes of neonatal hypotonia (see these terms). A multidisciplinary supportive care for the infants and families should be offer. Most infants die in infancy or Young childhood. Genetic Counseling allows parents to understand the natural History and progression of the disease and to determine the risk for future pregnancies.

Also Known As

  • Autosomal recessive neonatal adrenoleukodystrophy
  • NALD - [neonatal adrenoleukodystrophy]
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