PMID- 18577113
OWN - NLM
STAT- MEDLINE
DCOM- 20080812
LR  - 20081121
IS  - 1440-1827 (Electronic)
IS  - 1320-5463 (Linking)
VI  - 58
IP  - 7
DP  - 2008 Jul
TI  - Autopsy case of the neonatal form of carnitine palmitoyltransferase-II deficiency 
      triggered by a novel disease-causing mutation del1737C.
PG  - 436-41
LID - 10.1111/j.1440-1827.2008.02250.x [doi]
AB  - Carnitine palmitoyltransferase-II (CPT-II) deficiency is an autosomal recessive 
      disease involving mitochondrial long-chain fatty acid oxidation that results in a 
      distinct clinical phenotype. Reported herein is an autopsy case of the neonatal 
      form of CPT-II deficiency in a 2-day-old Japanese boy who died due to a severe 
      hepatocardiomuscular disease with an extremely early onset. Autopsy examination 
      indicated massive pulmonary atelectasis with intra-alveolar hemorrhage, and the 
      patient had marked cardiomegaly and hepatomegaly, both of which demonstrated the 
      presence of abundant intracytoplasmic steatosis. Three years after the autopsy 
      examination, CPT-II deficiency was suggested by acylcarnitine analysis of 
      dried-blood on filter paper from the patient's younger sister at the age of 1. 
      The younger sister also died due to sudden onset of cardiopulmonary arrest; a 
      remarkable increase of long-chain (C16-18) acylcarnitines was detected on tandem 
      mass spectrometry (TMS). Decreased CPT-II expression was detected in the liver, 
      heart and kidney of the patient. Furthermore, del1737C, a novel mutation of the 
      CPT-II gene, was detected as well as a known GA transition at codon 174. 
      Eventually, laboratory and autopsy findings led to diagnosis of the neonatal form 
      of CPT-II deficiency. TMS can be expected to be widely used to detect metabolic 
      disorders in neonates.
FAU - Semba, Shuho
AU  - Semba S
AD  - Division of Pathology, Department of Pathology, Kobe University Graduate School 
      of Medicine, Kobe, Japan. semba@med.kobe-u.ac.jp
FAU - Yasujima, Hidehiro
AU  - Yasujima H
FAU - Takano, Tomoko
AU  - Takano T
FAU - Yokozaki, Hiroshi
AU  - Yokozaki H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Australia
TA  - Pathol Int
JT  - Pathology international
JID - 9431380
RN  - EC 2.3.1.21 (Carnitine O-Palmitoyltransferase)
SB  - IM
MH  - Autopsy
MH  - Cardiomegaly/congenital
MH  - Carnitine O-Palmitoyltransferase/*deficiency/*genetics
MH  - Female
MH  - Hepatomegaly/congenital
MH  - Humans
MH  - Immunohistochemistry
MH  - Infant, Newborn
MH  - Lipid Metabolism, Inborn Errors/*genetics/*physiopathology
MH  - Male
MH  - Mutation
MH  - Pedigree
MH  - Pulmonary Atelectasis/etiology
MH  - Tandem Mass Spectrometry
EDAT- 2008/06/26 09:00
MHDA- 2008/08/13 09:00
CRDT- 2008/06/26 09:00
PHST- 2008/06/26 09:00 [pubmed]
PHST- 2008/08/13 09:00 [medline]
PHST- 2008/06/26 09:00 [entrez]
AID - PIN2250 [pii]
AID - 10.1111/j.1440-1827.2008.02250.x [doi]
PST - ppublish
SO  - Pathol Int. 2008 Jul;58(7):436-41. doi: 10.1111/j.1440-1827.2008.02250.x.