title: Primary adenosine monophosphate (AMP) deaminase deficiency in a hypotonic infant.
abstract: The spectrum of the adenosine monophosphate (AMP) deaminase deficiency ranges from asymptomatic carriers to patients who manifest exercise-induced muscle pain, occasionally rhabdomyolysis, and idiopathic hyperCKemia. However, previous to the introduction of molecular techniques, rare cases with congenital weakness and hypotonia have also been reported. We report a 6-month-old girl with the association of congenital muscle weakness and hypotonia, muscle deficiency of adenosine monophosphate deaminase, and the homozygous C to T mutation at nucleotide 34 of the adenosine monophosphate deaminase-1 gene. This observation indicates the possible existence of a primary adenosine monophosphate deaminase deficiency manifested by congenital muscle weakness and hypotonia.
authors.affiliation: Servicio de Neuropediatría, Hospital Clínico Universitario, Facultad de Medicina, Universidad de Santiago de Compostela, Santiago de Compostela, Spain. manuel.castro.gago@usc.es
authors.forename: Manuel
authors.initials: M
authors.lastname: Castro-Gago
authors.forename: Carmen
authors.initials: C
authors.lastname: Gómez-Lado
authors.forename: Laura
authors.initials: L
authors.lastname: Pérez-Gay
authors.forename: Jesús
authors.initials: J
authors.lastname: Eirís-Puñal
authors.forename: Elena Pintos
authors.initials: EP
authors.lastname: Martínez
authors.forename: Inés
authors.initials: I
authors.lastname: García-Consuegra
authors.forename: Miguel Angel
authors.initials: MA
authors.lastname: Martín
mesh_terms: D000659:AMP Deaminase / Q000172:deficiency*; D005260:Female; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018908:Muscle Weakness / Q000150:complications / Q000235:genetics; D018482:Muscle, Skeletal / Q000201:enzymology; D009154:Mutation / Q000235:genetics
chemical_list: D000659:AMP Deaminase