Recurrent metabolic decompensation in profound carnitine palmitoyltransferase II deficiency

1993 ◽  
Vol 122 (6) ◽  
pp. 917-919 ◽  
Author(s):  
Orly N. Elpeleg ◽  
Adina Joseph ◽  
David Branski ◽  
Ernst Christensen ◽  
Elisabeth Holme ◽  
...  
Keyword(s):  
Carnitine Palmitoyltransferase ◽  
Metabolic Decompensation ◽  
Carnitine Palmitoyltransferase Ii

scholarly journals Detection of Early Onset Carnitine Palmitoyltransferase II Deficiency by Newborn Screening. Should CPT II Deficiency Be a Primary Disease Target?

2021 ◽  
Vol 7 (3) ◽  
pp. 55
Author(s):  
Rachel Mador-House ◽  
Zaiping Liu ◽  
Sarah Dyack
Keyword(s):  
Newborn Screening ◽  
Early Onset ◽  
Screening Program ◽  
Carnitine Palmitoyltransferase ◽  
Positive Case ◽  
Metabolic Decompensation ◽  
Mass Spectrometry Identification ◽  
Expanded Newborn Screening ◽  
Carnitine Palmitoyltransferase Ii ◽  
Cpt Ii Deficiency

Early-onset carnitine palmitoyltransferase II deficiency (CPT II deficiency) (OMIM 600650) can result in severe outcomes, which are often fatal in the neonatal to infantile period. CPT II deficiency is a primary target in the Maritime Newborn Screening Program. We report a case of neonatal-onset CPT II deficiency identified through expanded newborn screening with tandem mass spectrometry. Identification through newborn screening led to early treatment interventions, avoidance of metabolic decompensation, and a better clinical outcome. Newborn screening for CPT II deficiency is highly sensitive and specific with no false positives identified. The only screen positive case detected identified a true positive case. This experience illustrates the importance of newborn screening for CPT II deficiency and demonstrates why reconsideration should be taken to add this disease as a primary newborn screening target.

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