Table 5.

Classic Isovaleric Acidemia: Recommended Evaluations Following Initial Diagnosis

EvaluationComment
Consultation w/metabolic physician / biochemical geneticist & specialist metabolic dietitian 1
  • Transfer to specialist center w/experience in mgmt of inherited metabolic diseases (strongly recommended)
  • Consideration of short hospitalization at center of expertise for inherited metabolic conditions to provide caregivers w/detailed education (natural history, maintenance & emergency treatment, prognosis, & risks for acute encephalopathic crises)
Nutrition /
Feeding assessment 		In symptomatic children w/feeding problems, need for tube feeding should be carefully evaluated by metabolic specialist & nutritional specialist.
Consultation w/neurologist In symptomatic persons, neurologic phenotype should be carefully assessed by child neurologist (in children & adolescents) or neurologist (in adults)
Developmental assessment Consider referral to developmental pediatrician.
Consultation w/psychologist &/or social worker To ensure understanding of diagnosis, assess parental / affected person's coping skills & resources, and provide sociolegal advice
Consultation w/physical therapist, occupational therapist, & speech therapist To ensure long-term benefit from treatment & to guide support of development (if necessary)
Genetic counseling by genetics professionals 2 To inform affected persons & their families re nature, MOI, & implications of classic IVA to facilitate medical & personal decision making

IVA = isovaleric acidemia; MOI = mode of inheritance

1.

After a new diagnosis of classic IVA in a child, the closest hospital and local pediatrician should also be informed.

2.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: Classic Isovaleric Acidemia

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