1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-6-85-b 10.15844/pedneurbriefs-6-11-8 Metabolic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Propionic Acidemia: Prognosis http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 11 1992 01 07 2016 6 11 85 86 Copyright: © 1992 The Author(s) 1992 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Neurologic outcome of propionic acidemia

The neurologic outcome of 20 patients with propionic acidemia was evaluated at the Medical Unit, Institute of Child Health, London, England.

 Propionic Acidemia Hypothermia Hypotonia

The neurologic outcome of 20 patients with propionic acidemia was evaluated at the Medical Unit, Institute of Child Health, London, England. In 11 patients who presented in the first week of life, the death rate was high and all were mentally retarded (IQ less than 60), and 3 had mild chorea or dystonia. Of 9 patients with onset after the neonatal period, 4 had a severe movement disorder that evolved following an episode of metabolic derangement. In the late onset group, CT disclosed transient basal ganglia lucencies after episodes of metabolic decompensation. CSF neurotransmitter metabolites were unchanged. [1]

COMMENT. A biotin-responsive propionic acidemia in a newborn is reported from Buenos Aires, Argentina and Paris, France [2]. The infant presented at the 4th day of life with partial feeding rejection, drowsiness, tachypnea, hypothermia and hepatomegaly. He developed generalized tonic-clonic seizures and required mechanical respiratory support. Enzyme studies in fibroblasts showed a profound deficiency of propionyl-CoA carboxylase activity and normal values for pyruvate carboxylase. Lab results showed severe metabolic acidosis and ketonuria. Treatment with carnitine and biotin was followed by clinical improvement and normal urine organic acids. One patient in the early onset group of the London study was treated with biotin and lived to 6 years of age. The outcome for patients with propionic acidemia is generally poor, although there is a wide variation.

Propionic acidemia (ketotic hyperglycinemia) should be distinguished from non-ketotic hyperglycinemia which is characterized by hypotonia, lethargy and seizures beginning on the first day of life. Some infants succumb within a few weeks, whereas others develop mental retardation and extrapyramidal signs. [3]

 Surtees RAH Matthews EE Leonard JV Neurologic outcome of propionic acidemia Pediatr Neurol 1992 Sep-Oct 8 5 333 337 10.1016/0887-8994(92)90085-D 1418175 Cayssials AE Lopez N Campoy CA Chadefaux Bernardette Chamoles NA Biotin-responsive propionic aciduria in a newborn: Preliminary report Pediatr Neurol 1992 Sept/Oct 8 409 (abstract) 10.1016/0887-8994(92)90349-4 Menkes JH Textbook of Child Neurology 1981 3rd Philadelphia Lea & Febiger