What is your guess? A four-day-old boy with an abnormal metabolic screen
| Autor: | Mark D. Kellogg, Patricia N. Hoover, Yan Zhang |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Male
medicine.medical_specialty Homocysteine business.industry Biochemistry (medical) Clinical Biochemistry Argininosuccinic Aciduria Infant Newborn Laboratory results Chromatography Ion Exchange chemistry.chemical_compound Endocrinology Neonatal Screening chemistry Internal medicine Citrulline Medicine Gestation Humans Hyperammonemia False Positive Reactions Leucine Amino Acids business |
| Zdroj: | Clinical chemistry. 57(6) |
| ISSN: | 1530-8561 |
| Popis: | A four-day-old boy with a positive result in newborn-screening testing was referred to the hospital for further evaluation. He was the product of a 39-week gestation and appeared well at birth. His laboratory results included the following plasma findings: ammonia, 109 μg/dL (reference interval, 20–65 μg/dL); citrulline, 169 μmol/L (reference interval, 2–50 μmol/L); and leucine, 278 μmol/L (reference interval, 32–153 μmol/L). Also found were increases in homocysteine and γ-aminobutyric acid. The amino acid spectrum is shown below … |
| Databáze: | OpenAIRE |
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