Laboratory evaluation of urea cycle disorders
The urea cycle disorders (UCDs) represent a group of inherited metabolic diseases with hyperammonemia as the primary laboratory abnormality. Affected individuals may become comatose or die if not treated rapidly. Diagnosis of a UCD requires a high index of suspicion and judicious use of the laborato...
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| Veröffentlicht in: | The Journal of pediatrics 2001-01, Vol.138 (1), p.S21-S29 |
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| container_end_page | S29 |
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| container_title | The Journal of pediatrics |
| container_volume | 138 |
| creator | Steiner, Robert D. Cederbaum, Stephen D. |
| description | The urea cycle disorders (UCDs) represent a group of inherited metabolic diseases with hyperammonemia as the primary laboratory abnormality. Affected individuals may become comatose or die if not treated rapidly. Diagnosis of a UCD requires a high index of suspicion and judicious use of the laboratory. It is important to rule out other conditions causing hyperammonemia that may require different treatment. The astute clinician may suspect a specific UCD in the appropriate clinical setting, but only laboratory results can confirm a specific diagnosis. The importance of the laboratory in helping the clinician to differentiate among various causes of hyperammonemia, in confirming a specific UCD, in carrier testing, and in prenatal diagnostic testing is highlighted in this review. (J Pediatr 2001;138:S21-S29) |
| doi_str_mv | 10.1067/mpd.2001.111833 |
| format | Article |
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Affected individuals may become comatose or die if not treated rapidly. Diagnosis of a UCD requires a high index of suspicion and judicious use of the laboratory. It is important to rule out other conditions causing hyperammonemia that may require different treatment. The astute clinician may suspect a specific UCD in the appropriate clinical setting, but only laboratory results can confirm a specific diagnosis. The importance of the laboratory in helping the clinician to differentiate among various causes of hyperammonemia, in confirming a specific UCD, in carrier testing, and in prenatal diagnostic testing is highlighted in this review. 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(J Pediatr 2001;138:S21-S29)</description><subject>Algorithms</subject><subject>Amino Acid Metabolism, Inborn Errors - diagnosis</subject><subject>Biological and medical sciences</subject><subject>Citrulline - metabolism</subject><subject>DNA Mutational Analysis</subject><subject>Humans</subject><subject>Hyperammonemia - diagnosis</subject><subject>Hyperammonemia - etiology</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Orotic Acid - urine</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. 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| source | MEDLINE; Elsevier ScienceDirect Journals Collection |
| subjects | Algorithms Amino Acid Metabolism, Inborn Errors - diagnosis Biological and medical sciences Citrulline - metabolism DNA Mutational Analysis Humans Hyperammonemia - diagnosis Hyperammonemia - etiology Investigative techniques, diagnostic techniques (general aspects) Medical sciences Metabolic diseases Orotic Acid - urine Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Urea - metabolism |
| title | Laboratory evaluation of urea cycle disorders |
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