Advertisement

What is chronic acid sphingomyelinase deficiency (ASMD)?

Chronic acid sphingomyelinase deficiency (ASMD) is a genetic disease. Normally, the waste that the cells make is cleared up by recycling machines called lysosomes. Lysosomes use enzymes such as acid sphingomyelinase to chop the waste into smaller pieces. But in chronic ASMD, there is not enough acid sphingomyelinase so the cells can’t chop up sphingomyelin. Sphingomyelin builds up inside the cells, causing the cells to swell up. The swollen cells cause problems in the spleen, liver, bones, and lungs.

Continue Learning about Genetic Disorders

Choosing a College or University When You Have SMA
Choosing a College or University When You Have SMA
Decisions about education are challenging for everyone. But when you or a loved one is living with a condition like spinal muscular atrophy (SMA), dec...
Read More
Coping with the Emotional Impact of SMA
Coping with the Emotional Impact of SMA
Spinal muscular atrophy (SMA) is the name given to a collection of rare genetic disorders that cause muscles to weaken and atrophy. SMA is a lifelong...
Read More
What is the Treatment for Spinal Muscular Atrophy?
What is the Treatment for Spinal Muscular Atrophy?
Spinal muscular atrophy (SMA) is the name given to a collection of rare genetic disorders that affect motor neurons. Motor neurons are located in the ...
Read More
5 Resources for People with Spinal Muscular Atrophy
5 Resources for People with Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a group of rare genetic disorders that interfere with the nervous system’s ability to send signals to muscles. This c...
Read More

Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.