Hydroxymethylglutaric aciduria

disorder

SNOMED 410059004CUI C1533587

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.

Reduced HMG-CoA lyase activity in cultured fibroblasts

Always present (100%)HP:6000216

3-methylglutaricaciduria

Very frequent (80-99%)HP:0003344

Elevated serum anion gap

Very frequent (80-99%)HP:0031962

High blood ammonia levels

Very frequent (80-99%)HP:0001987

Low blood sugar

Very frequent (80-99%)HP:0001943

Metabolic acidosis

Very frequent (80-99%)HP:0001942

Nonketotic hypoglycemia

Very frequent (80-99%)HP:0001958

Abnormal liver function

Frequent (30-79%)HP:0002910

Alanine aminotransferase increased

Frequent (30-79%)HP:0031964

Central hypotonia

Frequent (30-79%)HP:0001252

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased PT

Frequent (30-79%)HP:0032198

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Elevated serum aspartate aminotransferase

Frequent (30-79%)HP:0031956

Enlarged liver

Frequent (30-79%)HP:0002240

Epilepsy

Frequent (30-79%)HP:0001250

Episodic vomiting

Frequent (30-79%)HP:0002572

Hyperuricaemia

Frequent (30-79%)HP:0002149

Hypoglycemic episodes

Frequent (30-79%)HP:0001988

Increased blood lactate

Frequent (30-79%)HP:0002151

Lack of feeling, emotion, interest

Frequent (30-79%)HP:0000741

Lipid accumulation in hepatocytes

Frequent (30-79%)HP:0006561

Low factor II activity

Frequent (30-79%)HP:0008151

Low number of red blood cells or hemoglobin

Frequent (30-79%)HP:0001903

Refusing to eat

Frequent (30-79%)HP:0002039

Reye syndrome-like episodes

Frequent (30-79%)HP:0006582

Sleepy

Frequent (30-79%)HP:0002329

Tachypnea

Frequent (30-79%)HP:0002789

Torpor

Frequent (30-79%)HP:0001254

Apnea

Occasional (5-29%)HP:0002104

Related Conditions

Clinical manifestation of enzyme deficiency(parent)

Non-amino organic acidemia AND/OR aciduria(parent)

Fatty acid oxidation defect(parent)

Quick Facts

SNOMED CT: 410059004
UMLS CUI: C1533587
Fully Specified Name: Hydroxymethylglutaric aciduria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.