Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

Georgirene D. Vladutiu; Elizabeth J. Quackenbush; Bryan E. Hainline; Simone Albers; David S. Smail; Michael J. Bennett

doi:10.1067/mpd.2002.128545

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

Georgirene D. Vladutiu
, Elizabeth J. Quackenbush
, Bryan E. Hainline
, Simone Albers
, David S. Smail
, Michael J. Bennett

Pediatrics

Women and Children's Hospital of Buffalo
SUNY Buffalo
Boston Children's Hospital
Indiana University-Purdue University Indianapolis
University of Texas at Dallas

Research output: Contribution to journal › Article › peer-review

30 Scopus citations

Abstract

We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC → GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).

Original language	English
Pages (from-to)	734-736
Number of pages	3
Journal	Journal of Pediatrics
Volume	141
Issue number	5
DOIs	https://doi.org/10.1067/mpd.2002.128545
State	Published - Nov 1 2002

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10.1067/mpd.2002.128545

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title = "Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations",

abstract = "We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC → GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).",

author = "Vladutiu, \{Georgirene D.\} and Quackenbush, \{Elizabeth J.\} and Hainline, \{Bryan E.\} and Simone Albers and Smail, \{David S.\} and Bennett, \{Michael J.\}",

year = "2002",

month = nov,

day = "1",

doi = "10.1067/mpd.2002.128545",

language = "English",

volume = "141",

pages = "734--736",

journal = "Journal of Pediatrics",

issn = "0022-3476",

publisher = "Elsevier Inc.",

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Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. / Vladutiu, Georgirene D.; Quackenbush, Elizabeth J.; Hainline, Bryan E. et al.
In: Journal of Pediatrics, Vol. 141, No. 5, 01.11.2002, p. 734-736.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

AU - Vladutiu, Georgirene D.

AU - Quackenbush, Elizabeth J.

AU - Hainline, Bryan E.

AU - Albers, Simone

AU - Smail, David S.

AU - Bennett, Michael J.

PY - 2002/11/1

Y1 - 2002/11/1

N2 - We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC → GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).

AB - We describe a lethal neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency with compound heterozygosity for 2 truncation mutations (Q413fs and 109AGC → GCAGC). A new phenotype for a severe late infantile form of CPT II deficiency with hypoglycemia is associated with compound heterozygosity for the severe Q413fs mutation and a mild point mutation (P50H).

UR - https://www.scopus.com/pages/publications/0036842527

U2 - 10.1067/mpd.2002.128545

DO - 10.1067/mpd.2002.128545

M3 - Article

AN - SCOPUS:0036842527

SN - 0022-3476

VL - 141

SP - 734

EP - 736

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 5

ER -

Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations

Abstract

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