Mucolipidosis III Gamma
Mucolipidosis III Gamma
Mutations in the GNPTG gene cause mucolipidosis III gamma. This gene provides instructions for making a part (subunit) of an enzyme called GlcNAc-1-phosphotransferase. Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3.
Individuals with mucolipidosis III gamma grow slowly and have short stature. They also have stiff joints and dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. Many affected individuals develop low bone mineral density (osteoporosis), which weakens the bones and makes them prone to fracture. Osteoporosis and progressive joint problems also cause pain in people with mucolipidosis III gamma, which becomes more severe over time.
People with mucolipidosis III gamma often have heart valve abnormalities and mild clouding of the clear covering of the eye (cornea). Their facial features become slightly thickened or “coarse” over time. A small percentage of people with this condition have mild intellectual disability or learning problems. Individuals with mucolipidosis III gamma generally survive into adulthood, but they may have a shortened lifespan.
How Common is it?
Mucolipidosis III gamma is a very rare disorder, exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.
Additional Information
What other names do people use for mucolipidosis III gamma?
- ML IIIC
- Mucolipidosis III
- Mucolipidosis IIIC
- Mucolipidosis III, variant
- Mucolipidosis Type III
- Pseudo-Hurler Polydystrophy
Medical and Research Information
- Mucolipidosis review by Dr. Richard Steet. Prepared in 2016 and updated 2018 – Review here
- GeneReviews: Gives good descriptions of genetic diseases. Information is comprehensive, and access is free to all users.
- Genetic Home Reference: This has an excellent description of Mucolipidosis III with good reference to other information and resources.
- PubMed: Most recent literature
- OMIM: Technical information about the genetics of Mucolipidosis III. OMIM is a site developed for scientists and medical specialists and contains both general and highly technical information. Access to this site is free.
- Clinical Trials: Registry of federally and privately supported clinical trials conducted in the United States and around the world. This site gives information about each trial’s purpose, who may participate and the location.
- GeneTests: List of Laboratories testing for Mucolipdosis
Research Papers
- Mucolipidosis Gamma Authors: Annick Raas-Rothschild, MD and Ronen Spiegel MD
- Children with Mucolipidosis III Gamma Authors: Sara Cathey, MD, and Sheela Nampoothiri, MD, and others
Meet People with Mucolipidosis III Gamma
Kelley
For many years after our daughter Kelley received the diagnosis of ML III in 1973, we weren’t able to connect with others sharing her diagnosis. By 2009, we joined the MPS Society and started to find others with Mucolipidosis, sharing phone calls and email messages.
I was excited when, in July 2003 I received a message from Paul Murphy, the subject line of which read, “ISMRD Welcomes ML III Families.”
That was the first time anyone welcomed us using the name of Kelley’s disease! Paul explained that, as the president of ISMRD, the conditions of ML II and ML III were a natural fit for the organization. In 2005, we were delighted to be able to meet other families at a Conference sponsored by ISMRD. Members traveled from all around the United States and as far away as New Zealand and Italy to attend “Crossing Oceans for a Cure.”
The Conference proved to be a wonderful opportunity for us to meet with others, share our stories, and gain knowledge from the doctors who presented valuable information that we would have had to travel far and wide to obtain.
Although Kelley died in 2009, at the age of 45, we continued to attend more conferences and met up personally with other families. The availability of Facebook has helped us stay in touch with our many friends in the community and we always look forward to updates from ISMRD.
Denise Crompton, author of DIAGNOSIS: RARE DISEASE