Clinical, biochemical and molecular characteristics of malonyl-CoA decarboxylase deficiency and long-term follow-up of nine patients

Mol Genet Metab. 2019 Sep-Oct;128(1-2):113-121. doi: 10.1016/j.ymgme.2019.07.015. Epub 2019 Jul 29.

Authors

Affiliations

¹ CHOC Children's, Orange, CA, USA.
² Mayo Clinic, Rochester, MN, USA.
³ University of Missouri, Columbia, MO, USA.
⁴ Saint Peters University Hospital, New Brunswick, NJ, USA.
⁵ Children's Hospital of Wisconsin, Milwaukee, WI, USA.
⁶ Children's National Medical Center, Washington DC, USA.
⁷ Erasmus University Medical Center, Rotterdam, the Netherlands.
⁸ CHOC Children's, Orange, CA, USA. Electronic address: [email protected].

PMID: 31395333
DOI: 10.1016/j.ymgme.2019.07.015

No abstract available

Publication types

Multicenter Study
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Carboxy-Lyases* / deficiency
Carboxy-Lyases* / genetics
Child
Child, Preschool
Cohort Studies
Female
Follow-Up Studies
Humans
Infant
Infant, Newborn
Male
Malonyl Coenzyme A / genetics
Metabolism, Inborn Errors* / diagnosis
Metabolism, Inborn Errors* / diet therapy
Metabolism, Inborn Errors* / genetics
Methylmalonic Acid
Mutation

Substances

Carboxy-Lyases
Malonyl Coenzyme A
Methylmalonic Acid

Supplementary concepts

Malonic aciduria