[Propionicacidemia. A report on two cases (author's transl)].

J Costil; A Debard; A Guilhaume; C Charpentier; J L Pousset; H E Brissaud

PubMed · 6244624

[Propionicacidemia. A report on two cases (author's transl)].

J Costil·A Debard·A Guilhaume·C Charpentier·J L Pousset·H E Brissaud

Abstract

Two cases of propionicacidemia are reported. The first patient was a child aged 16 months with psychomotor retardation, severe disturbances of wakefulness, and vomiting; the second case concerned a new-born baby with metabolic acidosis and neurological disorders. In both cases the diagnosis of propionicacidemia was made after the discovery of ketonuria, and raised blood ammonia and glucose levels. Appropriate dietary measures led to great improvement in the first case, and nearly normal psychomotor development in the second case at 7 months of age. Problems related to biotin sensitivity, leucine intolerance, and raised blood ammonia levels are discussed.

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Ammonia Biotin Carboxy-Lyases Glycine Humans Infant Infant, Newborn Leucine Male Metabolism, Inborn Errors Neurologic Manifestations Propionates Case Reports English Abstract Journal Article

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J Costil, A Debard, A Guilhaume, C Charpentier, J L Pousset, H E Brissaud. [Propionicacidemia. A report on two cases (author's transl)].. https://pubmed.ncbi.nlm.nih.gov/6244624/

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