Metabolic Disorders / Biochemical Assays
In general, infants and children with metabolic disturbances do not have birth defects or other dysmorphic features common in other genetic conditions such as chromosomal abnormalities.
There are disorders, however, which have dysmorphic features and have a metabolic cause, i.e. Smith-Lemli-Opitz syndrome and Zellweger
syndrome; therefore, dysmorphic features should not necessarily rule out a
metabolic disorder. Clues to the presence of a metabolic defect may be largely
limited to abnormalities of growth, development, or organ function. Inborn errors of metabolism (metabolic disorders) should be suspected and
metabolic studies are warranted in patients with the following clinical
symptoms:
- Failure to grow, poor feeding, vomiting, diarrhea
- Lethargy or coma, hypotonia, respiratory distress
- Hepatomegaly, abnormal odor, abnormal eye findings
- Hypoglycemia, metabolic acidosis, ketosis, hyperammonemia
Metabolic tests usually require blood, urine or biopsy
specimens.
Analyses
Please contact the Center at 1-864-941-8111 or 1-800-473-9411 (toll free) for assays not listed or questions regarding specific biochemical or metabolic disorders.
Additional Tests
The following are a group of individual chemical tests that may be
performed when looking for a specific metabolic abnormality. These tests can
be done on urine or blood or on extracts from cultured cells. These chemical
tests, among others, include:
- phenylalanine analysis
- tyrosine analysis
- other individual amino acid analysis
- orotic acid quantitation
- aspartyglucosamine
The laboratory will assist you with requests for other metabolic tests
which have not been outlined in the preceding sections.
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