Deficiency of dimethylglycine dehydrogenase

disorder

SNOMED 719449007CUI C1853892

Overview

Deficiency of dimethylglycine dehydrogenase is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Elevated serum creatine phosphokinase

Very frequent (80-99%)HP:0003236

Fishy odor

Very frequent (80-99%)HP:0410020

Increased muscle fatiguability

Very frequent (80-99%)HP:0003750

Laboratory abnormality

Very frequent (80-99%)HP:0001939

Elevated N,N-dimethylglycine level

HP:0031945

Elevated urinary N,N-dimethylglycine level

HP:0031946

Related Conditions

Disorder of glycine metabolism(parent)

Recessive hereditary disorder (autosomal)(parent)

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 719449007
UMLS CUI: C1853892
Fully Specified Name: Deficiency of dimethylglycine dehydrogenase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.