Support group for MPS & Gaucher
- Inheritance, Diagnosis & Treatment |
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Mode of inheritance |
MPS has a hidden or recessive mode of inheritance,
and it shows up only when both the genes of the pair (derived
from each of the parent) in an individual are affected viz.
both the genes responsible for the production of enzymes are
at fault in the affected. It is enough if one has one functioning
gene to generate adequate enzyme to conduct a function well;
i.e. half as much enzyme can do twice the usual amount of work.
All types of MPS mentioned above other than Hunter Syndrome
(MPS ll) have the same pattern of inheritence, while Type ll
alone is X-linked and abnormality in the maternal gene component
contributes to this problem.
In other words, the parents of the affected child will have
one functional gene that does the work. There is a 25% recurrence
risk in subsequent pregnancies and 75% chance to result in a
child having one normal gene and not be affected by the disorder.
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Courtesy: www.e.medicine.com,
www.mpssociety.org |
Diagnosis of MPS |
Urine screening to estimate the levels
of GAGs ( MPS substances) such as dermatan sulfate, heparan
sulfate, keratan and chondroitin sulfate that are excreted,
is the first step to identify the problem of MPS after clinical
examination of the affected. Confirmation of the particular
type of disorder is done by enzyme assays in white blood cells
(leukocytes) or serum or fibroblast culture (skin biopsy). Prenatal
diagnosis of all types of MPS is possible by estimating the
enzyme levels in Chorionic villi biopsy done between 11-13 weeks
and Amniocentesis done between 16-20 weeks of gestation. |
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Treatment of MPS disorders |
Type I - Presently Enzyme
Replacement Therapy (ERT) & Bone Marrow Transplant (BMT)
are the only treatments available for Type I MPS. BMT is the
permanent cure found to be successful if done in children within
2 years of age. Early pick up of the affected ensures timely
action and good results. ERT is effective in children with Hurler
Scheie (Type I - H/S) / Scheie type ( Type I/S) disorders. Genzyme,
USA, magnanimously facilitates ERT totally free of cost through
their India Charitable Access Program ( INCAP) to Type I MPS
patients with confirmed diagnosis. But for this, ERT would be
beyond the reach of our patients, as it is a lifelong treatment
process and the cost of the drug is unaffordable.
Type II & VI - ERT for Type II & VI
are the recent innovations by Shire & Biomarin Pharmaceuticals
respectively. These are available only in the West across USA,
UK & EU. As there is no charity access in the offing by
these companies right now, patients in the other nations are
unable to get the benefits of the treatment. ERT in general
is useful to alleviate the present symptoms in the affected
& delays the progress of the disease. |
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Prognosis and morbidity: |
Survival rate of the MPS affected individuals
vary from early childhood to early adulthood and rarely some
type like MPS Scheie has normal life span. Morbidity is proportionately
related to the severity of the problem and it requires supportive
medical care. |
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