CMAMMA - combined malonic and methylmalonic aciduria

disorder

SNOMED 702365002CUI C3280314

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.

Dicarboxylic acidemia

Very frequent (80-99%)HP:0040145

Dicarboxylic aciduria

Very frequent (80-99%)HP:0003215

Methylmalonic acidemia

Very frequent (80-99%)HP:0002912

Methymalonicaciduria

Very frequent (80-99%)HP:0012120

Seizures

Frequent (30-79%)HP:0001250

Acidosis

Occasional (5-29%)HP:0001941

Behavioral symptoms

Occasional (5-29%)HP:0000708

Complex partial seizures

Occasional (5-29%)HP:0002384

Decreased size of cranium

Occasional (5-29%)HP:0000252

Dehydration

Occasional (5-29%)HP:0001944

Dystonic movements

Occasional (5-29%)HP:0001332

Elevated liver enzymes

Occasional (5-29%)HP:0002910

Encephalopathy

Occasional (5-29%)HP:0001298

Generalized clonic seizures

Occasional (5-29%)HP:0011169

Impaired continence

Occasional (5-29%)HP:0031064

Intermittent diarrhea

Occasional (5-29%)HP:0002254

Intermittent migraine headaches

Occasional (5-29%)HP:0002076

Low blood sugar

Occasional (5-29%)HP:0001943

Memory impairment

Occasional (5-29%)HP:0002354

Nasogastric tube feeding

Occasional (5-29%)HP:0040288

Poor weight gain

Occasional (5-29%)HP:0001508

Psychomotor development deficiency

Occasional (5-29%)HP:0001263

Speech difficulties

Occasional (5-29%)HP:0000750

Truncal hypotonia

Occasional (5-29%)HP:0008936

Vomiting

Occasional (5-29%)HP:0002013

Diarrhea

HP:0002014

Ketoacidosis

HP:0001993

Related Conditions

Methylmalonic acidemia(parent)

Disorder of fatty acid metabolism(parent)

Autosomal hereditary disorder(parent)

Quick Facts

SNOMED CT: 702365002
UMLS CUI: C3280314
Fully Specified Name: Combined malonic and methylmalonic aciduria (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 27

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.