Here is a recent abstract (below) about an inherited disease caused by an enzyme deficiency, called Krabbe disease. Krabbe disease is a devastating disease that is usually shows up in infancy. It is autosomal recessive, meaning both parents have to carry the mutation. It is a demyelinating disease. It is a case report about a baby with Krabbe that cropped up in a family with several MS cases. The authors suggest that possible "MS coinheritances" made the disease more severe in this baby. I thought about it another way - that maybe the Krabbe case may be a clue for MS susceptibility- that carriers of the gene in this family might have subnormal levels of the enzyme and might be more likely to develop MS. I fervently hope that the researchers examine the baby's family to see if cases of MS also carry the gene for Krabbe disease. If so, that could be a potential major breakthrough for MS, particularly if carrier status is found in other individuals with MS outside this particular family.
If someone could access this article and see if the authors discuss that possibility or already looked into it, I would be very grateful.
Krabbe disease has gotten recent press in the U.S. because Hunter, a young son of a professional football player recently died of this disease. His parents formed a foundation and info on Krabbe dissease can be found on the website huntershope.org, for those interested.
The huntershope.org website indicates that in the U.S., about one out of every 125 people carry one copy of this gene, so even if Krabbe disease (resulting from two copies of the gene) is very rare, having one copy is actually not that uncommon, at least in the U.S. population.
J Child Neurol. 2005 Oct;20(10):826-8. Links
Krabbe disease: severe neonatal presentation with a family history of multiple sclerosis.
Sahai I, Baris H, Kimonis V, Levy HL.
Krabbe disease, also known as globoid cell leukodystrophy, is a rare autosomal recessive disorder caused by a deficiency of a lysosomal enzyme, galactocerebrosidase. This defect prevents normal turnover of the galactolipids and results in progressive demyelination. In the infantile form, symptoms typically present at 3 to 6 months of age with subsequent neurologic deterioration. We report a case with presentation on day 7 of life and rapid progression culminating in death at 10 weeks. Galactocerebrosidase activity was absent in the leukocytes, and a 30 kb deletion in the GALC gene was found. To our knowledge, this is the earliest reported death from Krabbe disease. Several family members have multiple sclerosis, which is also a demyelinating disorder. We propose that the neonatal expression could be an example of complementary gene interaction in which coinheritance of a predisposition to multiple sclerosis led to the unusual early manifestation and rapid course of Krabbe disease in this infant. (J Child Neurol 2005;20:826-828).
PMID: 16417879 [PubMed - in process]
Unfortunately this is a tough disease biochemically for which there is no easy dietary fix, unlike some other enzyme deficiency diseases. So if it turned out to be related somehow to MS susceptibility, I'm not sure what treatment would be available. Also, if it were related, it would take other factors besides being a Krabbe carrier to cause MS, because MS is more rare in the population than Krabbe carrier status.
On a positive note, at least for babies with Krabbe disease, there now appears some hope for treatment via cord blood transplants!