Neonatal adrenoleukodystrophy
Neonatal Adrenoleukodystrophy (pronunciation: nee-o-nay-tal ad-reno-loo-ko-dis-tro-fee) is a rare, genetic disorder that primarily affects the adrenal glands, nervous system, and skin.
Etymology
The term "Neonatal Adrenoleukodystrophy" is derived from the following roots: "Neo-" from the Greek word "neos" meaning new, "-natal" from the Latin word "natalis" meaning birth, "Adreno-" from the Latin word "adrenalis" meaning adrenal gland, "-leuko-" from the Greek word "leukos" meaning white, and "-dystrophy" from the Greek word "dystrophia" meaning disorder.
Definition
Neonatal Adrenoleukodystrophy is a subtype of Peroxisome Biogenesis Disorder (PBD), a group of conditions that damage the peroxisomes, specialized cell structures that break down toxic substances and synthesize lipids necessary for cell function.
Symptoms
Symptoms of Neonatal Adrenoleukodystrophy may include hypotonia (low muscle tone), seizures, developmental delay, progressive loss of vision and hearing, and abnormalities in the adrenal glands.
Diagnosis
Diagnosis of Neonatal Adrenoleukodystrophy is typically made through a combination of clinical examination, biochemical testing, and genetic testing to identify mutations in the PEX1, PEX6, or PEX10 genes.
Treatment
There is currently no cure for Neonatal Adrenoleukodystrophy. Treatment is supportive and aims to manage symptoms and improve quality of life. This may include physical therapy for hypotonia, medications to manage seizures, and hormone replacement therapy for adrenal insufficiency.
Related Terms
External links
- Medical encyclopedia article on Neonatal adrenoleukodystrophy
- Wikipedia's article - Neonatal adrenoleukodystrophy
This WikiMD dictionary article is a stub. You can help make it a full article.
Languages: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
Urdu,
বাংলা,
తెలుగు,
தமிழ்,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
European
español,
Deutsch,
français,
русский,
português do Brasil,
Italian,
polski