Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly

J Pediatr Gastroenterol Nutr. 2015 Mar;60(3):e19-22. doi: 10.1097/MPG.0b013e3182a95a42.

Authors

Beom Hee Lee¹, Yoo-Mi Kim, Ja Hye Kim, Gu-Hwan Kim, Jae-Min Kim, Joo Hyun Kim, Kyu Ha Woo, Song Hyun Yang, Chong Jai Kim, In-Hee Choi, Han-Wook Yoo

Affiliation

¹ *Department of Pediatrics †Medical Genetics Center ‡Genome Research Center for Birth Defects and Genetic Disorders, Asan Medical Center, University of Ulsan College of Medicine §Green Cross Reference Laboratory ||Department of Pathology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

PMID: 23969540
DOI: 10.1097/MPG.0b013e3182a95a42

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Carnitine O-Palmitoyltransferase / deficiency*
Carnitine O-Palmitoyltransferase / genetics
Dietary Carbohydrates / therapeutic use
Dietary Supplements
Disease Progression
Family Health
Frameshift Mutation
Hepatomegaly / etiology*
Humans
Hypertrophy
Hypoglycemia / diet therapy
Hypoglycemia / genetics
Hypoglycemia / pathology
Hypoglycemia / physiopathology*
Infant
Kidney / pathology*
Lipid Metabolism, Inborn Errors / diet therapy
Lipid Metabolism, Inborn Errors / genetics
Lipid Metabolism, Inborn Errors / pathology
Lipid Metabolism, Inborn Errors / physiopathology*
Male
Mutation, Missense
Republic of Korea
Splenomegaly / etiology*
Treatment Outcome
Triglycerides / chemistry
Triglycerides / therapeutic use

Substances

Dietary Carbohydrates
Triglycerides
CPT1A protein, human
Carnitine O-Palmitoyltransferase

Supplementary concepts

Carnitine palmitoyl transferase 1A deficiency