Glycogen storage disease due to acid maltase deficiency, infantile onset

disorder

SNOMED 722302009CUI C3888924

Overview

Glycogen storage disease due to acid maltase deficiency, infantile onset 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

Alanine aminotransferase increased

Very frequent (80-99%)HP:0031964

Cardiomyopathy, hypertrophic

Very frequent (80-99%)HP:0001639

Delayed ability to sit

Very frequent (80-99%)HP:0025336

Delayed ability to stand

Very frequent (80-99%)HP:0025335

Elevated circulating creatine phosphokinase

Very frequent (80-99%)HP:0003236

Enlarged liver

Very frequent (80-99%)HP:0002240

Feeding difficulties in infancy

Very frequent (80-99%)HP:0008872

Hypotonia, early

Very frequent (80-99%)HP:0008947

Increased heart size

Very frequent (80-99%)HP:0001640

Increased lactate dehydrogenase level

Very frequent (80-99%)HP:0025435

Left ventricular outflow tract obstruction

Very frequent (80-99%)HP:0032092

Left ventricular wall hypertrophy

Very frequent (80-99%)HP:0001712

Multifocal hyperintensity of cerebral white matter on MRI

Very frequent (80-99%)HP:0040329

Muscle weakness

Very frequent (80-99%)HP:0001324

Oligosacchariduria

Very frequent (80-99%)HP:0010471

Poor weight gain

Very frequent (80-99%)HP:0001508

Absent tendon reflexes

Frequent (30-79%)HP:0001284

Cardiac murmur

Frequent (30-79%)HP:0030148

Delayed motor milestones

Frequent (30-79%)HP:0001270

Laboured breathing

Frequent (30-79%)HP:0002098

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Low facial muscle tone

Frequent (30-79%)HP:0000297

Low-output congestive heart failure

Frequent (30-79%)HP:0009805

Muscle weakness, generalised

Frequent (30-79%)HP:0003324

Proximal neurogenic muscle weakness

Frequent (30-79%)HP:0003701

Respiratory distress requiring endotracheal intubation

Frequent (30-79%)HP:0004887

Respiratory failure

Frequent (30-79%)HP:0002878

Respiratory failure due to muscle weakness

Frequent (30-79%)HP:0002747

Respiratory infection

Frequent (30-79%)HP:0011947

Related Conditions

Glycogen heart disease(parent)

Quick Facts

SNOMED CT: 722302009
UMLS CUI: C3888924
Fully Specified Name: Glycogen storage disease due to acid maltase deficiency, infantile onset (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.