Inborn disorder of ketolysis

MONDO:0019229

An inherited metabolic disease that is has its basis in the disruption of ketone body catabolic process.

Also known as: disorder of ketolysis, inborn error of ketone body catabolic process, inborn ketone body catabolic process disorder, rare inborn error of ketone body catabolic process

1 clinical trial for this condition and its sub-types, 0 tagged with Inborn disorder of ketolysis itself.

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Where it sits in the disease tree

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Part of

↑ Inherited lipid metabolism disorder (644) ↑ Disorder of fatty acid and ketone body metabolism (19)

Sub-types of Inborn disorder of ketolysis

Beta-ketothiolase deficiency 1 trial
Succinyl-CoA:3-ketoacid CoA transferase deficiency 0 trials

Including sub-types (1) Tagged with Inborn disorder of ketolysis (0)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC

Inborn disorder of ketolysis

Where it sits in the disease tree

Newborn screening study aims to catch rare diseases at birth