Hypermethioninemia encephalopathy due to deficiency of adenosine kinase

disorder

SNOMED 763721006CUI C4706555

Overview

Hypermethioninemia encephalopathy due to deficiency of adenosine kinase 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.

Alanine aminotransferase increased

Always present (100%)HP:0031964

Delayed language development

Always present (100%)HP:0000750

Epilepsy

Always present (100%)HP:0001250

Frontal protuberance

Always present (100%)HP:0002007

High blood AdoMet

Always present (100%)HP:0034731

High blood bilirubin levels

Always present (100%)HP:0002904

High methionine levels in cerebrospinal fluid

Always present (100%)HP:0500210

Increased distance between eyes

Always present (100%)HP:0000316

Increased methionine in blood

Always present (100%)HP:0003235

Multifocal EEG abnormality

Always present (100%)HP:0010841

Muscle degeneration

Always present (100%)HP:0003202

Muscle weakness

Always present (100%)HP:0001324

Muscular hypotonia

Always present (100%)HP:0001252

Poor speech

Always present (100%)HP:0002465

Portal fibrosis

Always present (100%)HP:0006580

Postnatal failure to thrive

Always present (100%)HP:0001508

Big calvaria

Very frequent (80-99%)HP:0000256

Elevated AdoHcy concentration

Very frequent (80-99%)HP:0034730

Low factor II activity

Very frequent (80-99%)HP:0008151

Cerebral atrophy

Frequent (30-79%)HP:0002059

Elevated circulating creatine phosphokinase

Frequent (30-79%)HP:0003236

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Patent ostium secundum

Frequent (30-79%)HP:0001684

Psychomotor retardation, profound

Frequent (30-79%)HP:0012736

Sensorineural deafness

Frequent (30-79%)HP:0000407

Slowed or blocked flow of bile from liver

Frequent (30-79%)HP:0001396

Aortic coarctation

Occasional (5-29%)HP:0001680

Fatty liver

Occasional (5-29%)HP:0001397

Pulmonary stenosis

Occasional (5-29%)HP:0001642

Slender feet

HP:0001786

Related Conditions

Hypermethioninemia(parent)

Metabolic encephalopathy(parent)

Congenital disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Central nervous system complication(parent)

Quick Facts

SNOMED CT: 763721006
UMLS CUI: C4706555
Fully Specified Name: Hypermethioninemia encephalopathy due to deficiency of adenosine kinase (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.