Chapter title |
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.
|
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Chapter number | 429 |
Book title |
JIMD Reports, Volume 23
|
Published in |
JIMD Reports, March 2015
|
DOI | 10.1007/8904_2015_429 |
Pubmed ID | |
Book ISBNs |
978-3-66-247466-2, 978-3-66-247467-9
|
Authors |
Rebecca C Ahrens-Nicklas, Esra Serdaroglu, Colleen Muraresku, Can Ficicioglu, Rebecca C. Ahrens-Nicklas, Ahrens-Nicklas, Rebecca C., Serdaroglu, Esra, Muraresku, Colleen, Ficicioglu, Can |
Abstract |
Cobalamin C (CblC) disease is the most common inherited disorder of intracellular cobalamin metabolism. It is a multisystemic disorder mainly affecting the eye and brain and characterized biochemically by methylmalonic aciduria, low methionine level, and homocystinuria. We report a patient found to have CblC disease who initially presented with low carnitine and normal propionylcarnitine (C3) levels on newborn screen. Newborn screening likely failed to detect CblC in this patient because of both his low carnitine level and the presence of a mild phenotype. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 10 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 3 | 30% |
Other | 2 | 20% |
Student > Ph. D. Student | 2 | 20% |
Student > Doctoral Student | 1 | 10% |
Student > Bachelor | 1 | 10% |
Other | 0 | 0% |
Unknown | 1 | 10% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 4 | 40% |
Biochemistry, Genetics and Molecular Biology | 2 | 20% |
Agricultural and Biological Sciences | 1 | 10% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 10% |
Unknown | 2 | 20% |