Table 4. [Recommended Evaluations Following Initial Diagnosis of VLCAD Deficiency in a Neonate or Infant]. - GeneReviews®

Evaluation	Comment
Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian ¹	Transfer to specialist center w/experience in mgmt of inherited metabolic diseases is strongly recommended. Consider short hospitalization at center of expertise for inherited metabolic conditions to provide caregivers w/detailed education (natural history, maintenance & emergency treatment, prognosis, & risks for crises).
Baseline laboratory studies	To incl serum creatine kinase concentration, liver transaminases, & blood glucose concentrations
Electrocardiogram	To assess for arrhythmias
Echocardiogram	To assess for cardiomyopathy & cardiac dysfunction
Nutrition / feeding team eval	To incl eval of feeding skills, anthropometric measures, & nutritional status
Consultation w/psychologist &/or social worker	To ensure understanding of diagnosis & assess parental / affected person's coping skills & resources
Genetic counseling by genetics professionals ²	To inform affected persons & families re nature, MOI, & implications of VLCAD deficiency to facilitate medical & personal decision making

Evaluation

Comment

Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian ¹

Transfer to specialist center w/experience in mgmt of inherited metabolic diseases is strongly recommended.
Consider short hospitalization at center of expertise for inherited metabolic conditions to provide caregivers w/detailed education (natural history, maintenance & emergency treatment, prognosis, & risks for crises).

Baseline laboratory studies

To incl serum creatine kinase concentration, liver transaminases, & blood glucose concentrations

Electrocardiogram

To assess for arrhythmias

Echocardiogram

To assess for cardiomyopathy & cardiac dysfunction

Nutrition / feeding team eval

To incl eval of feeding skills, anthropometric measures, & nutritional status

Consultation w/psychologist &/or social worker

To ensure understanding of diagnosis & assess parental / affected person's coping skills & resources

Genetic counseling by genetics professionals ²

To inform affected persons & families re nature, MOI, & implications of VLCAD deficiency to facilitate medical & personal decision making

From: Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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