Table 3.

Recommended Evaluations Following Initial Diagnosis of Fructose-1,6-Bisphosphatase Deficiency for a Child Not in Acute Crisis

Evaluation/ConcernComment
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 panel 2
  • Baseline serum uric acid
Developmental assessmentReferral to developmental pediatrician to assess motor, adaptive, cognitive, & speech/language skills; need for early intervention / special education
Consultation w/clinical geneticist &/or genetic counselorIncl genetic counseling
Family support/resourcesAssess:
  • Use of community or online resources such as Parent to Parent;
  • Need for social work involvement for parental support.
1.

Elevation of CK has been noted in at least one individual in acute crisis [Bhai et al 2018]. This may indicate rhabdomyolysis secondary to energy deficiency.

2.

See pseudo-hypertriglyceridemia in Suggestive Findings.

From: Fructose-1,6-Bisphosphatase Deficiency

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