Vitamin D deficiency occurs when the body doesn’t have enough vitamin D to maintain healthy bone and immune function. Vitamin D plays a vital role in calcium absorption and bone metabolism. 1 2
Difficulty with voluntary movements and balance. Sudden, uncontrolled electrical disturbances in the brain. Involuntary, rhythmic muscle contractions leading to shaking movements in one or more parts of the body.
Challenges in acquiring knowledge and skills to the level expected of those of the same age,
particularly in school-aged children.Progressive loss of cognitive functions, including memory,
problem-solving, and attention.
An increase in size of the liver and/or spleen due to lipid accumulation, which can lead to abdominal swelling and discomfort.
Challenges in breathing that may include shortness of breath, rapid breathing, or a chronic cough, potentially leading to recurrent respiratory infections.
Difficulty with voluntary movements and balance. Sudden, uncontrolled electrical disturbances in the brain. Involuntary, rhythmic muscle contractions leading to shaking movements in one or more parts of the body.
Challenges in acquiring knowledge and skills to the level expected of those of the same age, particularly in school-aged children.Progressive loss of cognitive functions, including memory, problem-solving, and attention.
An increase in size of the liver and/or spleen due to lipid accumulation, which can lead to abdominal swelling and discomfort.
Challenges in breathing that may include shortness of breath, rapid breathing, or a chronic cough, potentially leading to recurrent respiratory infections.
Vitamin D deficiency may not always cause noticeable symptoms. However, common signs can include:
In children, deficiency can lead to rickets, while in adults it may contribute to osteomalacia or osteoporosis.
6, 7, 8
Difficulty with voluntary movements and balance. Sudden, uncontrolled electrical disturbances in the brain. Involuntary, rhythmic muscle contractions leading to shaking movements in one or more parts of the body.
Challenges in acquiring knowledge and skills to the level expected of those of the same age, particularly in school-aged children. Progressive loss of cognitive functions, including memory, problem-solving, and attention.
An increase in size of the liver and/or spleen due to lipid accumulation, which can lead to abdominal swelling and discomfort.
Challenges in breathing that may include shortness of breath, rapid breathing, or a chronic cough, potentially leading to recurrent respiratory infections.
Several factors can contribute to low vitamin D levels:
Limited sunlight exposure – Especially in winter or in people who cover their skin.
Diet – Low intake of vitamin D-rich foods like fatty fish, fortified dairy products, or egg yolks.
Malabsorption – Conditions like celiac disease, Crohn’s disease, or bariatric surgery can affect vitamin D absorption.
Age – Older adults have a reduced ability to synthesize vitamin D from sunlight.
Skin pigmentation – People with darker skin produce less vitamin D in response to sunlight.
NPSuisse: https://www.npsuisse.ch/en/
Orphanet : https://www.orpha.net/en/disease/detail/646
1. Bajwa H, Azhar W. Niemann-Pick Disease. [Updated 2023 Mar 6]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK556129/
2. https://rarediseases.org/rare-diseases/niemann-pick-disease-type-c/#affected
