Information sheets are designed for health care professionals and provide a brief description of the disorder, along with describing the clinical symptoms, etiology, and treatment for the disorder. Find information below on: Metabolic Disorders, Endocrine Disorders, Blood Disorders, and Cystic Fibrosis.
Metabolic Disorders
Endocrine Disorders
Hemoglobin Traits (Carriers)
Physician info sheet:
Family info sheets (please share with families):
Physician info sheets:
Family info sheets (please share with families):
GAMT Screening Pilot Study
| Starting in April 2012 we will begin a pilot study to screen for a new disorder called GAMT deficienty (guanidinoacetate methyltransferase deficiency). This is a rare disorder that leads to irreversible brain damage if untreated. Early dietary therapy, starting in the neonatal period, can stop this damage from occurring. All newborn screening samples submitted for routine testing will be included in the pilot. Please see our project summary for more information on this GAMT pilot study. |
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Updated: March 31, 2011