Fatal carnitine palmitoyltransferase II deficiency in a newborn : New phenotypic features
We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly with biventricular hypertrophy, and ventricular arrhythmias. Cranial ultrasound revealed cystic dysplasia with se...
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| Veröffentlicht in: | Clinical pediatrics 1999, Vol.38 (1), p.13-20 |
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| creator | PIERCE, M. R PRIDJIAN, G MORRISON, S PICKOFF, A. S |
| description | We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly 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-II deficiency illustrates the severity of the early onset form of CPT-II deficiency. |
| doi_str_mv | 10.1177/000992289903800102 |
| format | Article |
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R ; PRIDJIAN, G ; MORRISON, S ; PICKOFF, A. S</creator><creatorcontrib>PIERCE, M. R ; PRIDJIAN, G ; MORRISON, S ; PICKOFF, A. S</creatorcontrib><description>We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly 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-II deficiency illustrates the severity of the early onset form of CPT-II deficiency.</description><identifier>ISSN: 0009-9228</identifier><identifier>EISSN: 1938-2707</identifier><identifier>DOI: 10.1177/000992289903800102</identifier><identifier>PMID: 9924637</identifier><identifier>CODEN: CPEDAM</identifier><language>eng</language><publisher>Glen head, NY: Westminster</publisher><subject>Abnormalities, Multiple - genetics ; Babies ; Biological and medical sciences ; Carnitine O-Palmitoyltransferase - deficiency ; Deficiency Diseases - genetics ; Deficiency Diseases - mortality ; Disease ; Enzymes ; Errors of metabolism ; Fatal Outcome ; Humans ; Infant, Newborn ; Lipids (lysosomal enzyme disorders, storage diseases) ; Male ; Medical disorders ; Medical sciences ; Metabolic diseases ; Mortality ; Phenotype</subject><ispartof>Clinical pediatrics, 1999, Vol.38 (1), p.13-20</ispartof><rights>1999 INIST-CNRS</rights><rights>Copyright Westminster Publications, Inc. 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S</creatorcontrib><title>Fatal carnitine palmitoyltransferase II deficiency in a newborn : New phenotypic features</title><title>Clinical pediatrics</title><addtitle>Clin Pediatr (Phila)</addtitle><description>We describe the term male infant of asymptomatic, healthy nonconsanguineous parents presenting on the first day of life with nonketotic hypoglycemia, seizures, hepatomegaly, cardiomegaly 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. 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| subjects | Abnormalities, Multiple - genetics Babies Biological and medical sciences Carnitine O-Palmitoyltransferase - deficiency Deficiency Diseases - genetics Deficiency Diseases - mortality Disease Enzymes Errors of metabolism Fatal Outcome Humans Infant, Newborn Lipids (lysosomal enzyme disorders, storage diseases) Male Medical disorders Medical sciences Metabolic diseases Mortality Phenotype |
| title | Fatal carnitine palmitoyltransferase II deficiency in a newborn : New phenotypic features |
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