[Peroxisomal D-bifunctional enzyme deficiency. A case report].
Newborn was referred with diagnosis of neonatal epilepsy. Medical team could suspect and confirm D-bifunctional peroxisomal enzymatic deficiency diagnosis. It was made by family antecedents, severe neonatal hypotonia, uncontrolled neonatal seizures, craniofacial dysmorphic features, psychomotor retardation, neuronal migration defect and a positive peroxisomal panel. The full study in skin fibroblasts involved enzyme analysis, complementation studies and DNA analysis. The accumulation of very long chain fatty acids, partial deficiency in phytanic acid oxidation, and abnormal morphology of peroxisomes was consistent with a defect in peroxisomal fatty acid oxidation, involving D-bifunctional protein. It is very important to make a diagnosis of this innate error of metabolism in order to give preconceptional genetic counseling, to identify recurrence risk and to perform mutation analysis for the D-bifunctional protein gene, and to offer the prenatal diagnosis.
Chávez-Torres
Raquel
R
Hospital General, Centro Médico Nacional La Raza, Mexico. rpchavez@prodigy.net.mx
Ruiz-Chávez
Jaime
J
Ruiz-Cruz
Eugenia
E
Juárez-Naranjo
Evelyn
E
Campos-Campos
Laura
L
Villanueva-Padrón
Laura
L
Horta-Martínez
Adriana
A
Montes-Castillo
María de la Luz
Mde L
Monroy-Hernández
Victor
V
Hernández-Caballero
Elena
E
D015094:3-Hydroxyacyl CoA Dehydrogenases / Q000172:deficiency*; D004746:Enoyl-CoA Hydratase / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D007535:Isomerases / Q000172:deficiency*; D008297:Male; D008659:Metabolic Diseases / Q000175:diagnosis*; D009097:Multienzyme Complexes / Q000172:deficiency; D063994:Peroxisomal Bifunctional Enzyme
D009097:Multienzyme Complexes; D015094:3-Hydroxyacyl CoA Dehydrogenases; C576253:EHHADH protein, human; D004746:Enoyl-CoA Hydratase; D063994:Peroxisomal Bifunctional Enzyme; D007535:Isomerases