Succinyl-CoA acetoacetate transferase deficiency

disorder

SNOMED 238004006CUI C0342792

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Ketoacidosis

Very frequent (80-99%)HP:0001993

Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts

Very frequent (80-99%)HP:6000361

Elevated circulating ketone body concentration

Frequent (30-79%)HP:0410175

Ketonaciduria

Frequent (30-79%)HP:0002919

Tachypnea

Frequent (30-79%)HP:0002789

Vomiting

Frequent (30-79%)HP:0002013

Coma

Occasional (5-29%)HP:0001259

Dehydration

Occasional (5-29%)HP:0001944

Failure to thrive in first year of life

Occasional (5-29%)HP:0001531

Increased heart size

Occasional (5-29%)HP:0001640

Languor

Occasional (5-29%)HP:0001254

Low body weight

Occasional (5-29%)HP:0004325

Nausea

Occasional (5-29%)HP:0002018

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Elevated urinary 3-hydroxybutyric acid

HP:0040155

Episodic ketoacidosis

HP:0005974

Related Conditions

Disorder of fatty acid metabolism(parent)

Quick Facts

SNOMED CT: 238004006
UMLS CUI: C0342792
Fully Specified Name: Succinyl-coenzyme A acetoacetate transferase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.