Partial deficiency of methylmalonyl-CoA mutase

disorder

SNOMED 237946002CUI C0342719

Overview

Partial deficiency of methylmalonyl-CoA mutase 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.

Dehydration

Very frequent (80-99%)HP:0001944

High blood ammonia levels

Very frequent (80-99%)HP:0001987

Inactivity

Very frequent (80-99%)HP:0001254

Laboured breathing

Very frequent (80-99%)HP:0002098

Poor weight gain

Very frequent (80-99%)HP:0001508

Refusing to eat

Very frequent (80-99%)HP:0002039

Stupor

Very frequent (80-99%)HP:0001259

Difficulty articulating speech

Frequent (30-79%)HP:0001260

Dull intelligence

Frequent (30-79%)HP:0001249

Dystonic movements

Frequent (30-79%)HP:0001332

Feeding difficulties

Frequent (30-79%)HP:0011968

Immune deficiency

Frequent (30-79%)HP:0002721

Large spleen

Frequent (30-79%)HP:0001744

Nausea and vomiting

Frequent (30-79%)HP:0002017

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Abnormality of movement

Occasional (5-29%)HP:0100022

Cerebral vascular events

Occasional (5-29%)HP:0001297

Choreoathetosis

Occasional (5-29%)HP:0001266

Disease of the heart muscle

Occasional (5-29%)HP:0001638

Enlarged liver

Occasional (5-29%)HP:0002240

Low number of red blood cells or hemoglobin

Occasional (5-29%)HP:0001903

Neutropoenia

Occasional (5-29%)HP:0001875

Optic atrophy

Occasional (5-29%)HP:0000648

Pancreatitis

Occasional (5-29%)HP:0001733

Renal failure in adulthood

Occasional (5-29%)HP:0000083

Seizures

Occasional (5-29%)HP:0001250

Stomach pain

Occasional (5-29%)HP:0002027

Thrombocytopenia

Occasional (5-29%)HP:0001873

Related Conditions

Deficiency of methylmalonyl-CoA mutase(parent)

Quick Facts

SNOMED CT: 237946002
UMLS CUI: C0342719
Fully Specified Name: Partial deficiency of methylmalonyl-coenzyme A mutase (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.