Table 7. [Recommended Evaluations Following Initial Diagnosis...]. - GeneReviews®

System/Concern	Evaluation	Comment
Metabolic decompensation	Consult w/metabolic physician/biochemical geneticist & specialist metabolic dietitian.	Consider short hospitalization at center of expertise for inherited metabolic conditions to provide detailed education (natural history, maintenance & emergency treatment, prognosis, & risks for acute metabolic crises) for caregivers.
STAT blood gas (arterial or venous), ammonia & lactic acid Glucose, liver transaminases (AST, ALT) Electrolytes w/bicarbonate, BUN, creatinine CK CBC w/differential & additional eval when infection is suspected.	Urgent labs to be obtained if acute metabolic crisis suspected
Plasma free & total carnitine, plasma acylcarnitine profile, & urine organic acids	Obtain during a period of acute metabolic decompensation if possible.
Assessment of feeding schedule	To avoid fasting (See Table 8.)
Development	Developmental assessment	To incl: Motor, adaptive, cognitive, & speech/language eval Eval for early intervention / special education
Neurologic	Consider neurologist consult.	For eval of myopathy & sensory neuropathy
Cardiologic	Consider cardiologist consult & echocardiography.	For baseline cardiac eval & to rule out cardiomyopathy
Miscellaneous/ Other	Consult w/psychologist &/or social worker.	To ensure understanding of diagnosis & assess parents' / affected person's coping skills & resources

System/Concern

Evaluation

Comment

Metabolic
decompensation

Consult w/metabolic physician/biochemical geneticist & specialist metabolic dietitian.

Consider short hospitalization at center of expertise for inherited metabolic conditions to provide detailed education (natural history, maintenance & emergency treatment, prognosis, & risks for acute metabolic crises) for caregivers.

STAT blood gas (arterial or venous), ammonia & lactic acid
Glucose, liver transaminases (AST, ALT)
Electrolytes w/bicarbonate, BUN, creatinine
CK
CBC w/differential & additional eval when infection is suspected.

Urgent labs to be obtained if acute metabolic crisis suspected

Plasma free & total carnitine, plasma acylcarnitine profile, & urine organic acids

Obtain during a period of acute metabolic decompensation if possible.

Assessment of feeding schedule

To avoid fasting (See Table 8.)

Development

Developmental assessment

To incl:

Motor, adaptive, cognitive, & speech/language eval
Eval for early intervention / special education

Neurologic

Consider neurologist consult.

For eval of myopathy & sensory neuropathy

Cardiologic

Consider cardiologist consult & echocardiography.

For baseline cardiac eval & to rule out cardiomyopathy

Miscellaneous/
Other

Consult w/psychologist &/or social worker.

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

From: Multiple Acyl-CoA Dehydrogenase Deficiency

GeneReviews^® [Internet].

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

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