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2020

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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CARNITINE PALMITOYLTRANSFERASE 2 DEFICIENCY - NOT ALWAYS A STRAIGHT FORWARD DIAGNOSIS

Ana Cristina Ferreira1, José PedroVieira2, Sousa C3, Hugo Rocha3, Laura Vilarinho3, Silvia Sequeira1

1 MetabolicUnit, Hosp Dona Estefânia, Centro Hospitalar de Lisboa Central, Lisbon, Portugal; 
2 Neuropediatric Service, Hosp Dona Estefânia, Centro Hospitalar de Lisboa CentralLisbon, Portugal;
3 Newborn Screening, Instituto Nacional de Saúde Dr. Ricardo Jorge, Oporto, Portugal

12th International Congress of Inborn Errors of Metabolism, 3rd-6th September 2013, Barcelona (Poster)

Background: CarnitinePalmitoyltransferase 2(CPT2) deficiency is an autosomal recessive disorder of fatty oxidation presenting mainly in adolescents and young adults. The muscular form is characterized by attacks of myalgia and myoglobinuria while the infantile variety usually presents with recurrent attacks of hypoketotichypoglycaemia, liver and, sometimes, concomitant cardiac involvement.

Case Report: Two-year-old girl presenting a febrile episode followed by refusal to walk or stand, hepatomegaly, high CK levels (>140000IU/l), myoglobinuria and elevated transaminases (AST-4258U/L and ALT-1753U/L). Glycaemia and cardiac evaluation were normal. She had a previous similar episode at 22 months of age. Despite the high CK levels muscle palpation seemed painless. Her father had recurrent episodes of muscular rigidity during his childhood and early adulthood with possible triggering events. Acylcarnitinecromatography diagnosed CPT2 deficiency and molecular studies showed that the child and her father were homozygous for the c.338C>T(p.S113L) mutation.

Discussion: We describe a predominantly myopathic form of CPT2 deficiency with myoglobinuria in a very young child, an aspect that is very rarely described in the literature. It is also shows that the neonatal screening proved not useful for this diagnosis and, as the father was symptomatic and homozygous for the same mutations, that CPT2 deficiency is certainly underdiagnosed.

Keywords: CarnitinePalmitoyltransferase 2, CPT2, case report