Management Guidelines
Evaluations Following Initial Diagnosis
To establish the extent of disease and needs in a child diagnosed with fructose-1,6-bisphosphatase (FBP1) deficiency who is not in acute crisis, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended . Note that the management of possible multisystem complications resulting from early and prolonged hypoglycemia are not discussed in this GeneReview.
Table 3.
Recommended Evaluations Following Initial Diagnosis of Fructose-1,6-Bisphosphatase Deficiency for a Child Not in Acute Crisis
Evaluation/Concern | Comment
Consultation w/metabolic physician / biochemical geneticist specialist metabolic dietician | • Consider obtaining baseline blood gas, lactate, ketones, CK.1
Assess growth parameters (height, weight, head circumference).
Assess diet nutritional status.
Hepatomegaly | • Abdominal ultrasound to assess for hepatomegaly
Baseline liver function tests
Baseline serum lipid panel2
Baseline serum uric acid
Developmental assessment | Referral to developmental pediatrician to assess motor, adaptive, cognitive, speech-language skills; need for early intervention / special education
Consultation w/clinical geneticist /or genetic counselor | Incl genetic counseling
Family support/resources | Assess:
Use of community or online resources such as Parent to Parent;
Need for social work involvement for parental support.
Source: GeneReviews — "Fructose-1,6-Bisphosphatase Deficiency"
