DOI: 10.1177/000992289903800102. Fatal Carnitine Palmitoyltransferase II Deficiency in a Newborn: New Phenotpic Features

Fatal Carnitine Palmitoyltransferase II Deficiency in a Newborn: New Phenotpic Features

10.1177/000992289903800102

Crossref journal-article

SAGE Publications

Clinical Pediatrics (179)

Abstract

We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardio-megaly with biventricular hypertrophy, and ventricular arrhythmias. Cranial ultrasound revealed cystic dysplasia with several foci of hyperechogenicity within the right basal ganglia. Free carnitine was markedly decreased in the urine and plasma with a pronounced elevation of plasma long-chain acylcarnitines. Fibroblast carnitine palmitoyltransferase II activity was reduced to 26% and 38% in the father and mother, respectively. The infant expired on day 5 of life from malignant ventricular tachy-arrhythmias. Diffuse lipid accumulation was evident at autopsy, including in the liver, heart, kidney, adrenal cortex, skeletal muscle, and lungs. This new case of infantile CPT-1I deficiency illustrates the severity of the early onset form of CPT-II deficiency.

Bibliography

Pierce, M. R., Pridjian, G., Morrison, S., & Pickoff, A. S. (1999). Fatal Carnitine Palmitoyltransferase II Deficiency in a Newborn: New Phenotpic Features. Clinical Pediatrics, 38(1), 13â20.

Authors 4

Maria R. Pierce (first)
Gabriella Pridjian (additional)
Sarah Morrison (additional)
Arthur S. Pickoff (additional)

References 26 Referenced 27

{'key': 'atypb1', 'first-page': '1501', 'volume-title': 'The Metabolic and Molecular Bases of Inherited Disease', 'author': 'Roe CR', 'year': '1995', 'edition': '7'} / The Metabolic and Molecular Bases of Inherited Disease by Roe CR (1995)
10.1172/JCI112820
10.1016/0305-0491(73)90359-3
{'key': 'atypb4', 'first-page': 'H9', 'volume': '256', 'author': 'Ascuitto RJ', 'year': '1989', 'journal-title': 'Am J Physiol'} / Am J Physiol by Ascuitto RJ (1989)
10.1146/annurev.bi.49.070180.002143
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{'key': 'atypb7', 'first-page': '889', 'volume-title': 'The Metabolic Basis of Inherited Disease', 'author': 'Roe CR', 'year': '1989'} / The Metabolic Basis of Inherited Disease by Roe CR (1989)
10.1203/00006450-198902000-00001 / Pediatr Res by Hug G (1989)
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{'key': 'atypb12', 'first-page': '309', 'volume-title': 'New Developments in Fatty Acid Oxidation', 'author': 'Land JM', 'year': '1992'} / New Developments in Fatty Acid Oxidation by Land JM (1992)
10.1007/BF00710434
10.1016/S0022-3476(94)70281-0
{'key': 'atypb15', 'first-page': '73a', 'volume': '29', 'author': 'Zinn AB', 'year': '1991', 'journal-title': 'Pediatr Res'} / Pediatr Res by Zinn AB (1991)
{'key': 'atypb16', 'first-page': '109A', 'volume': '49', 'author': 'With DR', 'year': '1991', 'journal-title': 'Am J Hum Gene'} / Am J Hum Gene by With DR (1991)
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21. Shapira E, Blitzer MG, Miller JB, Africk DK Biochemical Genetics: A Laboratory Manual. New York: Oxford University Press; 1989:118-118.
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10.1111/j.1476-5381.1990.tb12953.x
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10.1172/JCI113978

Dates

Type	When
Created	18 years, 2 months ago (June 21, 2007, 9:21 p.m.)
Deposited	6 months ago (Feb. 28, 2025, 7:59 p.m.)
Indexed	1 month ago (Aug. 6, 2025, 9:59 a.m.)
Issued	26 years, 8 months ago (Jan. 1, 1999)
Published	26 years, 8 months ago (Jan. 1, 1999)
Published Online	26 years, 8 months ago (Jan. 1, 1999)
Published Print	26 years, 8 months ago (Jan. 1, 1999)

Funders 0

None

BibTeX

@article{Pierce_1999, title={Fatal Carnitine Palmitoyltransferase II Deficiency in a Newborn: New Phenotpic Features}, volume={38}, ISSN={1938-2707}, url={http://dx.doi.org/10.1177/000992289903800102}, DOI={10.1177/000992289903800102}, number={1}, journal={Clinical Pediatrics}, publisher={SAGE Publications}, author={Pierce, Maria R. and Pridjian, Gabriella and Morrison, Sarah and Pickoff, Arthur S.}, year={1999}, month=jan, pages={13–20} }

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