PMID- 32781271
OWN - NLM
STAT- MEDLINE
DCOM- 20210608
LR  - 20210608
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 64
IP  - 1
DP  - 2021 Jan
TI  - A patient with atypical presentation of chronic hepatosteatosis harboring a novel 
      variant in the CPT1A gene.
PG  - 104034
LID - S1769-7212(20)30215-9 [pii]
LID - 10.1016/j.ejmg.2020.104034 [doi]
AB  - Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare disorder of 
      hepatic long-chain fatty acid oxidation. Most patients with CPT1A deficiency 
      present with hypoketotic hypoglycemia and hepatic encephalopathy. We describe an 
      atypical case of an 8-year-old male with CPT1A deficiency presenting with chronic 
      liver steatosis and cirrhosis. He also had a history of developmental delay, 
      autism spectrum disorder, and mild dysmorphic features of unknown cause. His 
      newborn screening test suggested CPT1A deficiency, but confirmatory biochemical 
      testing was not conclusive. The patient never experienced a metabolic crisis. At 
      age six, hepatomegaly was detected. Further investigations showed transaminitis, 
      hepatosteatosis and cirrhosis. Repeat acylcarnitine profile and total/free 
      carnitine were consistent with CPT1A deficiency. The CPTI enzyme activity was 18% 
      of normal on fibroblast enzyme assay. A novel homozygous variant in the CPT1A 
      gene, c.1394G > A (p.Gly465Glu) was identified from whole-exome sequencing. To 
      our knowledge, the patient is the first reported individual with CPT1A deficiency 
      and chronic liver steatosis and fibrosis. Developmental delay and autistic 
      spectrum disorder are not typical features of CPT1A deficiency, given that the 
      patient never experienced any metabolic decompensation.
CI  - Copyright (c) 2020 Elsevier Masson SAS. All rights reserved.
FAU - Boonsimma, Ponghatai
AU  - Boonsimma P
AD  - Division of Medical Genetics and Metabolism, Department of Pediatrics, Faculty of 
      Medicine, Chulalongkorn University, Bangkok, 10330, Thailand.
FAU - Crosby, Kathleen
AU  - Crosby K
AD  - Division of Genetics and Metabolism, Children's National Hospital, Rare Disease 
      Institute, Washington, DC, 20010, USA.
FAU - Mohan, Parvathi
AU  - Mohan P
AD  - Department of Gastroenterology, Hepatology and Nutrition, Children's National 
      Hospital, Washington, DC, 20010, USA.
FAU - Puscasiu, Elena
AU  - Puscasiu E
AD  - Department of Pathology, Children's National Hospital, Washington, DC, 20010, 
      USA.
FAU - Tanpaiboon, Pranoot
AU  - Tanpaiboon P
AD  - Division of Genetics and Metabolism, Children's National Hospital, Rare Disease 
      Institute, Washington, DC, 20010, USA. Electronic address: 
      pranoot.x.tanpaiboon@questdiagnostics.com.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20200808
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - EC 2.3.1.21 (CPT1A protein, human)
RN  - EC 2.3.1.21 (Carnitine O-Palmitoyltransferase)
SB  - IM
MH  - Autism Spectrum Disorder/*genetics/pathology
MH  - Carnitine O-Palmitoyltransferase/*genetics
MH  - Child
MH  - Developmental Disabilities/*genetics/pathology
MH  - Fatty Liver/*genetics/pathology
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Mutation, Missense
MH  - Phenotype
OTO - NOTNLM
OT  - CPT1A
OT  - Cirrhosis
OT  - Fatty acid oxidation defects
OT  - Hepatosteatosis
EDAT- 2020/08/12 06:00
MHDA- 2021/06/09 06:00
CRDT- 2020/08/12 06:00
PHST- 2020/03/14 00:00 [received]
PHST- 2020/06/10 00:00 [revised]
PHST- 2020/07/31 00:00 [accepted]
PHST- 2020/08/12 06:00 [pubmed]
PHST- 2021/06/09 06:00 [medline]
PHST- 2020/08/12 06:00 [entrez]
AID - S1769-7212(20)30215-9 [pii]
AID - 10.1016/j.ejmg.2020.104034 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2021 Jan;64(1):104034. doi: 10.1016/j.ejmg.2020.104034. Epub 
      2020 Aug 8.