Carnitine palmitoyl transferase 1A deficiency in an adult with recurrent severe steato hepatitis aggravated by high pathologic or physiologic demands: A roller-coaster for internists

Clin Mol Hepatol. 2019 Dec;25(4):412-416. doi: 10.3350/cmh.2018.0114. Epub 2019 Jun 24.

Authors

Prasit Phowthongkum^{1

2}, Kanya Suphapeetiporn^{3

4}, Vorasuk Shotelersuk^{3

4}

Affiliations

¹ Division of Medical Genetics, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
² Medical Genetics Clinic, King Chulalongkorn Memorial Hospital, The Thai Red Cross Society, Bangkok, Thailand.
³ Center of Excellence for Medical Genetics, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
⁴ Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Bangkok, Thailand.

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Adult
Anti-Bacterial Agents / therapeutic use
Carnitine / analogs & derivatives
Carnitine / blood
Carnitine O-Palmitoyltransferase / deficiency*
Carnitine O-Palmitoyltransferase / genetics
Escherichia coli Infections / complications
Escherichia coli Infections / diagnosis
Escherichia coli Infections / drug therapy
Humans
Hypoglycemia / complications
Hypoglycemia / diagnosis*
Hypoglycemia / genetics
Lipid Metabolism, Inborn Errors / complications
Lipid Metabolism, Inborn Errors / diagnosis*
Lipid Metabolism, Inborn Errors / genetics
Liver / pathology
Male
Mutation, Missense
Non-alcoholic Fatty Liver Disease / complications
Non-alcoholic Fatty Liver Disease / diagnosis*
Non-alcoholic Fatty Liver Disease / pathology
Recurrence
Severity of Illness Index

Substances

Anti-Bacterial Agents
acylcarnitine
Carnitine O-Palmitoyltransferase
Carnitine

Supplementary concepts

Carnitine palmitoyl transferase 1A deficiency