Acute metabolic decompensation in propionic acidaemia — OSCE

OSCE communication and shared decision-making station: explaining to parents what a new propionic acidaemia diagnosis means for their neonate who survived a high-anion-gap metabolic acidosis crisis, why the toxic organic acids were so dangerous, what the emergency and long-term management involves, the role of liver transplantation, and what the autosomal recessive inheritance means for future pregnancies — while addressing guilt, the fear of recurrence, and the practical realities of a protein-restricted diet and emergency sick-day plan.

osce communication and shared decision-making3 min readVerification in progress

Prompt

The parents of a five-day-old boy sit with you in the neonatal unit. He was well at birth but deteriorated at 48 hours with lethargy, vomiting and seizures; his blood gas showed a high-anion-gap metabolic acidosis with ketosis and his ammonia was 310 micromoles per litre. He was resuscitated with calorie loading, L-carnitine and bicarbonate, and the metabolic work-up has confirmed propionic acidaemia with a raised propionylcarnitine, methylcitrate in the urine, and pathogenic variants in PCCB. The parents are frightened, have read conflicting information online about diet and 'cures', are overwhelmed by the prospect of a lifelong restricted diet, and are terrified about having another affected child. Counsel them.

Task

Counsel the parents. You have five minutes. Demonstrate an organised, empathic, and accurate explanation that addresses the four questions a fellowship communication station rewards: why the metabolic crisis was so dangerous and what happened to their son, what the immediate and long-term plan is, what the autosomal recessive inheritance means for their son's care and for future pregnancies, and what the role of liver transplantation is. The management and counselling framework follows the Baumgartner guidelines. ^[1]

References3Show

[1]Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis, 2014.PMID 25205257
[3]Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, et al. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis, 2013.PMID 24059531
[8]Sen K, Burrage LC, Chapman KA, Ginevic I, et al. Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 2023.PMID 36534118

Acute metabolic decompensation in propionic acidaemia — OSCE

osce communication and shared decision-making3 min readVerification in progress

Task

References3Show

[1]Baumgartner MR, Hörster F, Dionisi-Vici C, Haliloglu G, et al. Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia. Orphanet J Rare Dis, 2014.PMID 25205257
[3]Nizon M, Ottolenghi C, Valayannopoulos V, Arnoux JB, et al. Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. Orphanet J Rare Dis, 2013.PMID 24059531
[8]Sen K, Burrage LC, Chapman KA, Ginevic I, et al. Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med, 2023.PMID 36534118