alexa Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Genetics & Molecular Biology

Genetics & Molecular Biology

Journal of Genetic Syndromes & Gene Therapy

Author(s): Korman SH, Waterham HR, Gutman A, Jakobs C, Wanders RJ

Abstract Share this page

Abstract Detection of hepatic carnitine palmitoyltransferase I (CPT IA) deficiency by metabolite screening may be problematic. The urine organic acid profile is generally said to be normal and no abnormal or increased acylcarnitine species are evident on bloodspot tandem MS examination. We diagnosed CPT IA deficiency presenting with acute encephalopathy +/- hypoglycemia and hepatomegaly in one Bukharan Jewish and two Palestinian Arab infants from consanguineous families. CPT1A mutation analysis identified two novel nonsense mutations, c.1737C>A (Y579X) and c.1600delC (L534fsX), extending the known genetic heterogeneity in this disorder. A distinctive organic aciduria was observed in all three patients, even several days after initiation of treatment and resolution of symptoms. Abnormal findings included a hypoketotic dicarboxylic aciduria with prominence of the C12 dicarboxylic (dodecanedioic) acid. This C12 dicarboxylic aciduria suggests that CPT I may play a role in uptake of long-chain dicarboxylic acids by mitochondria after their initial shortening by beta-oxidation in peroxisomes. In addition, increased excretion of 3-hydroxyglutaric acid was detected in all three patients, a finding previously observed only in glutaric aciduria type 1, ketosis, and short-chain hydroxyacyl-CoA dehydrogenase deficiency. Examination of urine organic acids with awareness of these metabolic findings may lead to improved diagnosis of this seemingly rare disorder. This article was published in Mol Genet Metab and referenced in Journal of Genetic Syndromes & Gene Therapy

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

  • 10th International Conference on Genomics and Molecular Biology
    May 21-23, 2018 Barcelona, Spain
  • 5th International Conference on Human Genetics and Genetic Disorders September 21-22,2018 Philadelphia, USA Theme: Sharing Discoveries of the Future Human Genome
    September 21-22,2018 Philadelphia, USA
  • 3rd World Congress on Human Genetics & Genetic Disorders
    October 20-21, 2017 Toronto, Canada

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

1-702-714-7001Extn: 9037

Business & Management Journals


1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

1-702-714-7001Extn: 9042

General Science

Andrea Jason

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

1-702-714-7001Extn: 9042

© 2008- 2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version