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Spotlight On
Wolman disease
A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea, and vomiting
Prevalence
Unknown
Age of Onset
ICD-10
E75.5
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
WD is the most severe type of lysosomal acid lipase deficiency
FACT
Onset is usually seen in the first weeks of life with, abdominal distension and major and massive hepatosplenomegaly
FACT
Common symptoms in infants include enlarged liver and spleen, poor weight gain, low muscle tone, jaundice, vomiting, diarrhea, developmental delay, anemia, and poor absorption of nutrients from food
FACT
Complete absence of LAL activity causes Wolman Disease, which is normally fatal within the first 6 months of life
FACT
The presence of calcified adrenal glands is a common and very characteristic sign
Interest over time
Common signs & symptoms
Abdominal distention
Adrenal calcification
Global developmental delay
Hepatic failure
Hepatomegaly
Nausea and vomiting
Steatorrhea
Anemia
Current treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
Sebelipase alfa(Brand name: Kanuma) Manufactured by Alexion Pharmaceuticals
FDA-approved indication: Indicated for the treatment of patients with a diagnosis of lysosomal acid Lipase (LAL) deficiency.
National Library of Medicine Drug Information Portal