Title |
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy
|
---|---|
Published in |
European Journal of Pediatrics, June 2014
|
DOI | 10.1007/s00431-014-2359-6 |
Pubmed ID | |
Authors |
Alexander Laemmle, Christian Balmer, Carsten Doell, Jörn Oliver Sass, Johannes Häberle, Matthias R. Baumgartner |
Abstract |
Propionic acidemia (PA) is a rare autosomal recessive organic aciduria resulting from defects in propionyl-CoA-carboxylase (PCC), a key enzyme of intermediate energy metabolism. PA mostly manifests during the neonatal period, when affected newborns develop severe metabolic acidosis and hyperammonemia. We present a previously healthy teenager, who suffered from acute fatigue and breathlessness. The patient was tachycardic, displayed a precordial heave and a systolic murmur. Cardiac investigations revealed severe dilated cardiomyopathy (DCM). Biochemical work up led to the diagnosis of PA. Remarkably, this patient of consanguineous Hispanic origin was in a good general health condition before the acute onset of DCM. Diagnosis of PA was confirmed by enzymatic and molecular genetic analysis, the latter revealing a novel homozygous mutation in the PCCB gene (c.1229G > A; p.R410Q). Residual PCC enzyme activity of approximately 14 % of normal was detected in patient's lymphocytes and fibroblasts, thereby providing a possible explanation for the hitherto asymptomatic phenotype. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 50% |
Venezuela, Bolivarian Republic of | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 2 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 40 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Unspecified | 6 | 15% |
Student > Master | 5 | 13% |
Other | 3 | 8% |
Student > Bachelor | 3 | 8% |
Student > Doctoral Student | 3 | 8% |
Other | 12 | 30% |
Unknown | 8 | 20% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 11 | 28% |
Biochemistry, Genetics and Molecular Biology | 6 | 15% |
Unspecified | 6 | 15% |
Nursing and Health Professions | 2 | 5% |
Agricultural and Biological Sciences | 2 | 5% |
Other | 5 | 13% |
Unknown | 8 | 20% |