Fumarase deficiency (FD) is a rare and severe autosomal disorder, caused by inactivity of
the enzyme fumarase, due to biallelic mutations of the fumarase hydratase (FH) gene …

Fumarate hydratase (FH) deficiency results in severe neonatal and early infantile
encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy …

Fumarate hydratase deficiency (FHD) caused by biallelic alterations of the FH (fumarate
hydratase) gene is a rare disorder of the tricarboxylic acid cycle, classically characterized by …

Fumarate hydratase deficiency results in severe neonatal and early infantile
encephalopathy that is characterized by poor feeding, failure to thrive, hypotonia, lethargy …

Discussion FH deficiency is a rare metabolic disorder, which results due to the absence of
the enzyme FH in the Krebs cycle (Zinn et al., 1986). FH converts fumarate to l-malate. A lack …

Fumarase is an enzyme involved in the Krebs cycle. Fumarase deficiency (FD) is an
autosomal recessive disorder that is associated with neurocognitive dysfunctions. In the …

Fumaric aciduria is a rare autosomal recessive metabolic disease which is characterized
with excessive fumaric acid exretion in urine. In the prenatal period, polyhydramniosis …

Primary Mitochondrial Diseases (PMDs) are genetic disorders due to mutations in nuclear or
mitochondrial DNA which lead to defective mitochondrial physiology. Genomic medicine is …

Method: The objective is to analyse the pharmacological and nutritional approach of a
neonate who presented symptoms of metabolic congenital disorders. Results: The patient is …

Introducción: El déficit de fumarasa es una enfermedad rara del metabolismo, autosómica,
que cursa con hipotonía, hiperlactacidemia y convulsiones. El diagnóstico basado en …