Newborn Screening
Children’s Hospital of Michigan at is home to a lifelong follow-up and treatment program for individuals diagnosed with an inborn error of metabolism following a positive newborn screen. In Michigan, newborns are screened for approximately
50 different genetic disorders. Blood samples taken from the newborns shortly after birth are sent to the State of Michigan’s Newborn Screening Laboratory in Lansing for testing. Newborns that test positive for an inborn error of metabolism
are referred to the Children’s Hospital of Michigan Metabolic Clinic, located within the Division of Genetic, Genomic and Metabolic Disorders, for confirmatory testing and, if needed, diagnosis and lifelong management. Patients
are seen at the Children’s Hospital of Michigan as well as at satellite locations in Southfield and Grand Rapids. A multidisciplinary team composed of physicians, metabolic dietitians, a genetic counselor, specially trained nurses and nurse
practitioners, a social worker and psychologist work together to manage infants, children and adults with metabolic diseases. Treatments are individualized for each metabolic disorder and may involve dietary management and/or medications.
Lysosomal Storage Disease Treatment Program (Enzyme Replacement Therapy)
The Lysosomal Storage Disease Treatment Program is housed in the Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan. The team of geneticists, nurse practitioner and genetic counselors work
closely with pediatric cardiologists, ophthalmologists, orthopaedists, pulmonologists and other subspecialists to evaluate and treat children with lysosomal storage diseases. Affected children typically lack an enzyme responsible for metabolizing
or breaking down substances in the body. If these substances accumulate to toxic levels, multi-organ damage occurs. If left untreated, many lysosomal storage diseases result in serious medical complications and can be fatal.
Enzyme replacement therapy (ERT) involves replacing the missing enzyme through intravenous infusions. ERT is particularly effective if started early; many symptoms can be prevented, improved and/or eliminated. Thus, early diagnosis
and treatment of lysosomal storage diseases is critical. A comprehensive evaluation is the initial step in diagnosis and subsequent treatment.
Fetal Alcohol Syndrome Clinic
The Division of Genetic, Genomic and Metabolic Disorders at the Children’s Hospital of Michigan has developed a Fetal Alcohol Syndrome Clinic. Fetal alcohol syndrome (FAS) is caused by maternal consumption of alcohol during pregnancy.
FAS is characterized by pre and postnatal growth deficiency, a distinctive constellation of facial features, and developmental and behavioral problems. Not every child exposed to alcohol during the prenatal period will have FAS, but
all children who have been exposed to alcohol in-uteroare at risk to have FAS or other developmental or behavioral problems. Any child who is suspected or known to have fetal alcohol syndrome can be referred to the clinic for
in-depth evaluation, counseling and follow-up care. Prior to the initial evaluation, the caregivers are asked to complete a questionnaire about the child’s medical and developmental histories. They are also asked to send copies of
previous school and/or psychological evaluations to the clinic. During the visit the Genetics team reviews the detailed medical and developmental histories, and performs a thorough physical examination on the child to determine if he/she
has the features of FAS. Based on the outcome of the initial visit, the clinic refers families to other ancillary services and treatment and provides follow-up care as needed.
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