PMID: 32373372 While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults. Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake.
PMID: 38484105 Classic IVA is characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet). Acute metabolic decompensations are typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake.
Parent term (use hpo.jax.org/app)
Triggered by food ingestion HP:0033793
Diseases characterized by this term ? (e.g. Orphanet or OMIM number)
ORPHA:664 Ornithine transcarbamylase deficiency
ORPHA:33 Isovaleric acidemia
Preferred term label:
Synonyms Triggered by protein-rich foods
Definition (free text, please give PubMed ID)
PMID: 32373372 While the urea cycle disorders (UCDs) classically present in the neonatal stage, they have become increasingly recognized as a rare cause of unexplained hyperammonemic encephalopathy in adults. Many metabolic triggers for late-onset UCDs have been described in the literature including excessive protein intake.
PMID: 38484105 Classic IVA is characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet). Acute metabolic decompensations are typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake.
Parent term (use hpo.jax.org/app) Triggered by food ingestion HP:0033793
Diseases characterized by this term ? (e.g. Orphanet or OMIM number) ORPHA:664 Ornithine transcarbamylase deficiency ORPHA:33 Isovaleric acidemia
Your nano-attribution (ORCID) 0009-0005-6714-5727