The Role of the Primary Care Pediatrician in Fumarate Hydratase Deficiency

 Joseph Burns, MD, Allison B. Driansky, MD


Fumarate hydratase deficiency, also known as fumarase deficiency or fumaric aciduria, is an exceptionally rare autosomal recessive condition with only 40 reported cases globally caused by a deficiency of the Krebs cycle enzyme fumarase. Affected children may present with an early infantile encephalopathy characterized by developmental delay, poor feeding, failure to thrive, lethargy, hypotonia, or seizures with associated dysmorphisms including frontal bossing, wide-spaced eyes, a depressed nasal bridge and microcephaly. Affected children typically do not survive infancy. 

This case reports a female infant over her first year of life, starting from  her first well child check since discharge from the neonatal intensive care unit (NICU). Her NICU course was significant subclinical seizures on electroencephalogram now managed with phenobarbital, gastrostomy tube placement, and genetic and metabolic evaluation significant for fumaric aciduria, diagnostic of fumarate hydratase deficiency. 

In this case we discuss the critical position of her primary pediatrician in coordinating her care across multiple services including neurology, gastroenterology, medical genetics, high-risk neonatology and home care services in the outpatient setting. We will continue to optimize her daily well being based on family’s goals and multidisciplinary team input all while taking into consideration her overall poor prognosis.

For complete article, please find PDF at this link: Case Report