title: Neurologic outcome of propionic acidemia.
abstract: Twenty patients with propionic acidemia were reviewed retrospectively. Two groups were identified: those who presented in the first week of life (11 patients) or after the neonatal period (9 patients). The early onset of disease had a much higher death rate (hazard ratio: 7.52) and all patients in this group were mentally retarded (IQ < or = 60). Movement disorder was common in both groups. Of the early-onset group, 3 patients had mild chorea or dystonia. Four in the late-onset group had a severe movement disorder. In the late onset group, cranial computed tomography disclosed transient basal ganglia lucencies following an episode of metabolic decompensation; however, no disturbance in amine neurotransmitter metabolite concentrations were found in the cerebrospinal fluid.
authors.affiliation: Medical Unit, Institute of Child Health, London, England.
authors.forename: R A
authors.initials: RA
authors.lastname: Surtees
authors.forename: E E
authors.initials: EE
authors.lastname: Matthews
authors.forename: J V
authors.initials: JV
authors.lastname: Leonard
mesh_terms: D000592:Amino Acid Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000401:mortality; D001710:Biotin / Q000008:administration & dosage; D002262:Carboxy-Lyases / Q000172:deficiency; D002648:Child; D002675:Child, Preschool; D004044:Dietary Proteins / Q000008:administration & dosage; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D043586:Methylmalonyl-CoA Decarboxylase; D009460:Neurologic Examination; D011422:Propionates / Q000097:blood*; D012189:Retrospective Studies; D016019:Survival Analysis; D015996:Survival Rate
chemical_list: D004044:Dietary Proteins; D011422:Propionates; D001710:Biotin; D002262:Carboxy-Lyases; D043586:Methylmalonyl-CoA Decarboxylase; C029658:propionic acid