Deficiency of guanidinoacetate methyltransferase

disorder

SNOMED 124239003CUI C0574080

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.

Decreased serum creatinine

Always present (100%)HP:0012101

Elevated brain guanidinoacetate level by MRS

Always present (100%)HP:6000484

Elevated circulating guanidinoacetic acid concentration

Always present (100%)HP:0034321

Reduced tissue guanidinoacetate methyltransferase activity

Always present (100%)HP:6000722

Speech and language difficulties

Always present (100%)HP:0000750

Seizures

Very frequent (80-99%)HP:0001250

Abnormality of movement

Frequent (30-79%)HP:0100022

Behavioral symptoms

Frequent (30-79%)HP:0000708

Extrapyramidal syndrome

Frequent (30-79%)HP:0002071

Global developmental delay, severe

Frequent (30-79%)HP:0011344

Mental retardation, severe

Frequent (30-79%)HP:0010864

Muscle rigidity

Frequent (30-79%)HP:0002063

Nonverbal

Frequent (30-79%)HP:0001344

Problems speaking

Frequent (30-79%)HP:0002465

Progressive extrapyramidal movement disorder

Frequent (30-79%)HP:0007153

Spasticity and rigidity of muscles

Frequent (30-79%)HP:0001276

Abnormal head movements

Occasional (5-29%)HP:0002457

Aggression

Occasional (5-29%)HP:0000718

Ataxia

Occasional (5-29%)HP:0001251

Athetoid movements

Occasional (5-29%)HP:0002305

Autism

Occasional (5-29%)HP:0000717

Autoagression

Occasional (5-29%)HP:0100716

Choreatic disease

Occasional (5-29%)HP:0002072

Complex partial seizures

Occasional (5-29%)HP:0002384

Drop attacks

Occasional (5-29%)HP:0010819

Dystonic movements

Occasional (5-29%)HP:0001332

Febrile seizure (within the age range of 3 months to 6 years)

Occasional (5-29%)HP:0002373

Frequent vomiting

Occasional (5-29%)HP:0002572

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

hyperkinetic disorder

Occasional (5-29%)HP:0000752

Related Conditions

Deficiency of transferase(parent)

Disorder of creatine synthesis(parent)

Quick Facts

SNOMED CT: 124239003
UMLS CUI: C0574080
Fully Specified Name: Deficiency of guanidinoacetate methyltransferase (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.