Neonatal carnitine palmitoyltransferase II deficiency associated with Dandy-Walker syndrome and sudden death

Yahyaoui, Raquel; Espinosa, María Gracia; Gomez, C.C.S.; Dayaldasani, Anita; Rueda, Inmaculada; Roldan, Ana; Ugarte, Magdalena; Lastra, G.; Pérez, Vidal

doi:10.1016/j.ymgme.2011.05.003

Cited by 21 publications

(14 citation statements)

References 22 publications

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“…SCD in these patients occurred with or without previous cardiac disease. The metabolic defect in these patients may reside within the oxidative,7 fatty acid,8 or glycogen metabolism 9. Previous studies have already shown that MM might be associated with pituitary adenoma 11.…”

Section: Discussionmentioning

confidence: 97%

Aborted Sudden Cardiac Death and a Mother with Suspected Metabolic Myopathy

Finsterer

Stöllberger

Keller

2014

Clin Med Insights Cardiol

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Aborted sudden cardiac death (SCD) has not been reported as initial manifestation of cardiac involvement in metabolic myopathy (MM). A 20-year-old female with a previous history of three syncopes, hyperhidrosis, and recurrent tick bites experienced aborted SCD. Her mother presented with MM, and a history of pituitary adenoma, nephroptosis, arterial hypertension, depression, migraine, goiter, pancreatitis, osteoporosis, hyperhidrosis, multiple muscle ruptures, and hyperlipidemia. After a few days of disorientation and amnesia, the young female recovered completely. Clinical neurological examination was noticeable for partial ophthalmoparesis and mild hyperprolactinemia. She received an implantable cardioverter defibrillator, which did not discharge so far. Recurrent syncopes and aborted SCD may be the initial manifestation of MM with multiple organ involvement. The family history is important in cases with aborted SCD to guide the diagnostic work-up. Phenotypic heterogeneity between the family members may be an indicator of MM.

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Section: Discussionmentioning

confidence: 97%

Aborted Sudden Cardiac Death and a Mother with Suspected Metabolic Myopathy

Finsterer

Stöllberger

Keller

2014

Clin Med Insights Cardiol

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“…(ii) Severe infantile hepatocardiomuscular form is characterized by hypoketotic hypoglycaemia, liver failure, cardiomyopathy, and peripheral myopathy [16,[25][26][27]. The main cause of causality during infancy is reported to be cardiac arrhythmia [16,28].…”

Section: Three Phenotypes Of Cpt II Deficiencymentioning

confidence: 99%

“…The main cause of causality during infancy is reported to be cardiac arrhythmia [16,28]. Apart from that, hepatomegaly [27] and Dandy-Walker malformation are also reported to be fatal [26]. So far, some 30 families with this form are described [16,[25][26][27][28].…”

Section: Three Phenotypes Of Cpt II Deficiencymentioning

confidence: 99%

Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach

Joshi

Zierz

2020

Molecules

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Carnitine palmitoyltransferase (CPT) catalyzes the transfer of long- and medium-chain fatty acids from cytoplasm into mitochondria, where oxidation of fatty acids takes place. Deficiency of CPT enzyme is associated with rare diseases of fatty acid metabolism. CPT is present in two subforms: CPT I at the outer mitochondrial membrane and carnitine palmitoyltransferase II (CPT II) inside the mitochondria. Deficiency of CPT II results in the most common inherited disorder of long-chain fatty acid oxidation affecting skeletal muscle. There is a lethal neonatal form, a severe infantile hepato-cardio-muscular form, and a rather mild myopathic form characterized by exercise-induced myalgia, weakness, and myoglobinuria. Total CPT activity (CPT I + CPT II) in muscles of CPT II-deficient patients is generally normal. Nevertheless, in some patients, not detectable to reduced total activities are also reported. CPT II protein is also shown in normal concentration in patients with normal CPT enzymatic activity. However, residual CPT II shows abnormal inhibition sensitivity towards malonyl-CoA, Triton X-100 and fatty acid metabolites in patients. Genetic studies have identified a common p.Ser113Leu mutation in the muscle form along with around 100 different rare mutations. The biochemical consequences of these mutations have been controversial. Hypotheses include lack of enzymatically active protein, partial enzyme deficiency and abnormally regulated enzyme. The recombinant enzyme experiments that we recently conducted have shown that CPT II enzyme is extremely thermoliable and is abnormally inhibited by different emulsifiers and detergents such as malonyl-CoA, palmitoyl-CoA, palmitoylcarnitine, Tween 20 and Triton X-100. Here, we present a conceptual overview on CPT II deficiency based on our own findings and on results from other studies addressing clinical, biochemical, histological, immunohistological and genetic aspects, as well as recent advancements in diagnosis and therapeutic strategies in this disorder.

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“…The infantile form is clinically characterized by hypoketotic hypoglycemia, severe hepatomuscular symptoms, cardiac abnormalities, seizures, lethargy, or dysmorphic features, such as brain or kidney dysorganogenesis. 39 The infantile form is almost always lethal during the first months of life. 40 The adult form is characterized by episodes of rhabdomyolysis, triggered by exercise.…”

Section: Fatty-acid Oxidation Disordersmentioning

confidence: 99%

“…However, a number of patients experiencing SCD were reported in whom cardiac arrest was attributed to CI, such as in infantile CPT-II deficiency, 39 carnitin/acyl-carnitin translocase deficiency, or medium-chain acyl-CoA deficiency (MCAD). 41 Sudden cardiac death was also reported in a patient with systemic primary carnitin deficiency 41 and infantile verylong-chain acyl-dehydrogenase deficiency (VLCAD).…”

Section: Fatty-acid Oxidation Disordersmentioning

confidence: 99%