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Macro-AST: misleading finding in an adolescent with MCAD-deficiency.

Authors :
Das AM
Drache S
Janzen N
Franke A
Source :
BMC gastroenterology [BMC Gastroenterol] 2012 Aug 30; Vol. 12, pp. 119. Date of Electronic Publication: 2012 Aug 30.
Publication Year :
2012

Abstract

Background: MCAD-deficiency is the most common inborn error of fatty acid oxidation now included in many newborn screening programms using MS/MS. During prolonged catabolic episodes, patients may suffer from metabolic decompensation with dysfunction of liver, skeletal- and heart muscle as well as brain. In anabolism, neither clinical symptoms nor biochemical signs of organ dysfunction occur.<br />Case Presentation: We report a female patient with MCAD-deficiency in whom at the age of 11 years isolated AST-elevation was found without any clinical or biochemical signs of organ dysfunction. We showed by polyethylene glycol precipitation that macro-AST formation was responsible for this biochemical finding. AST was probably complexed with immunoglobulins possibly related to an allergic disposition. Macro-AST formation is not a special feature of MCAD-deficiency but rather a non-specific, coincidental finding which also occurs in healthy individuals. The general practitioner consulted by the patient before coming to our outpatient clinic for inborn errors of metabolism was worried that isolated AST-elevation indicated cell damage in MCAD-deficiency. He ordered further diagnostic tests like ultrasound, ECG and echocardiography without any pathology.<br />Conclusion: In isolated AST-elevation, macro-AST has to be considered in order to avoid unnecessary, costly and invasive evaluation. This is not only true for healthy persons but for patients with chronic diseases like MCAD as well.

Details

Language :
English
ISSN :
1471-230X
Volume :
12
Database :
MEDLINE
Journal :
BMC gastroenterology
Publication Type :
Academic Journal
Accession number :
22935320
Full Text :
https://doi.org/10.1186/1471-230X-12-119