ABSTRACT
Glutaric acidemia type I (GA-I) is a rare, autosomal recessive metabolic disorder that leads to severe dystonia, basal ganglia degeneration, and bilaterally enlarged anterior middle cranial fossae. The current management of this disease includes early diagnosis with newborn screening, prevention of catabolism, carnitine supplementation, and a strict dietary protein restriction. Neurosurgical evaluation and intervention may be necessary in patients with structural lesions associated with this disease. In this report, the authors present two pediatric patients with GA-I and discuss the neurosurgical aspects of this rare medical disorder.
Subject(s)
Amino Acid Metabolism, Inborn Errors/diagnosis , Amino Acid Metabolism, Inborn Errors/surgery , Brain Diseases, Metabolic, Inborn/diagnosis , Brain Diseases, Metabolic, Inborn/surgery , Glutaryl-CoA Dehydrogenase/deficiency , Amino Acid Metabolism, Inborn Errors/prevention & control , Brain Diseases, Metabolic, Inborn/prevention & control , Child, Preschool , Humans , MaleABSTRACT
Prospective observation in a neonate with guanidinoacetate methyltransferase deficiency (GAMT-D), a severe neurometabolic disorder, revealed increased guanidinoacetate levels at birth. After 14-month treatment with creatine, high-dose ornithine, benzoate, and an arginine-restricted diet, the patient's development is normal and she does not present any symptoms of GAMT-D. The authors' observation indicates that early detection of GAMT-D is possible in the neonatal period, and presymptomatic treatment may prevent its manifestation.
Subject(s)
Benzoates/administration & dosage , Brain Diseases, Metabolic, Inborn/diagnosis , Brain Diseases, Metabolic, Inborn/prevention & control , Creatine/administration & dosage , Guanidinoacetate N-Methyltransferase/deficiency , Ornithine/administration & dosage , Brain Diseases, Metabolic, Inborn/drug therapy , Drug Combinations , Female , Humans , Infant, Newborn , Treatment OutcomeSubject(s)
Brain Diseases, Metabolic, Inborn , Glutaryl-CoA Dehydrogenase/deficiency , Brain Diseases, Metabolic, Inborn/diagnosis , Brain Diseases, Metabolic, Inborn/epidemiology , Brain Diseases, Metabolic, Inborn/genetics , Brain Diseases, Metabolic, Inborn/prevention & control , Carnitine/therapeutic use , Child, Preschool , Cough/etiology , Diet, Protein-Restricted , Dietary Carbohydrates/administration & dosage , Fever/etiology , Genes, Recessive/genetics , Glutarates/urine , Homozygote , Humans , Incidence , Kuwait/epidemiology , Magnetic Resonance Imaging , Male , Mutation/genetics , Seizures/etiology , Tomography, X-Ray Computed , Vomiting/etiologySubject(s)
Blood Chemical Analysis/methods , Brain Diseases, Metabolic, Inborn/prevention & control , Mass Screening/methods , Brain Diseases, Metabolic, Inborn/blood , Brain Diseases, Metabolic, Inborn/epidemiology , Child, Preschool , Developing Countries , Female , Humans , India/epidemiology , Infant , Male , Pilot Projects , Risk FactorsABSTRACT
Se presenta la experiencia obtenida de un pesquisaje en masa sobre errores congénitos del metabolismo de los aminoácidos, en una población de alrededor de 600 retrasados mentales, revisándose algunas definiciones y conceptos acerca de estos errores. Se concluye que la condición idiocia fenilpirúvica existe en nuestro medio, que las pruebas metabólicas y cromatográficas de rutina deben aplicarse a todo niño con retraso mental, y que debe emprenderse el pesquisaje en masa de todos los recién nacidos para detectar precozmente la fenilcetonuria y evitar el daño cerebral irreversible con el tratamiento dietético adecuado(AU)
