← Back to Conditions

Hyperlysinemia

disorder
SNOMED 58558003CUI C0268553

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.

Elevated urinary saccharopine level
Always present (100%)HP:6000283
Abnormality of circulating enzyme level
Very frequent (80-99%)HP:0011021
Hyperlysinemia
Very frequent (80-99%)HP:0002161
Abnormal circulating enzyme concentration or activity
Frequent (30-79%)HP:0012379
Abnormal CSF ornithine concentration
Frequent (30-79%)HP:0500243
Behavioral changes
Frequent (30-79%)HP:0000708
Decreased body height
Frequent (30-79%)HP:0004322
Decreased CSF arginine concentration
Frequent (30-79%)HP:0500204
Decreased size of cranium
Frequent (30-79%)HP:0000252
Decreased urine alpha-ketoglutarate concentration
Frequent (30-79%)HP:0012403
Delayed language development
Frequent (30-79%)HP:0000750
Dull intelligence
Frequent (30-79%)HP:0001249
EEG with spike-wave complexes
Frequent (30-79%)HP:0010850
Growth abnormality
Frequent (30-79%)HP:0001507
High blood ammonia levels
Frequent (30-79%)HP:0001987
High urine arginine levels
Frequent (30-79%)HP:0003268
Hypotonia, early
Frequent (30-79%)HP:0008947
Increased CSF lysine concentration
Frequent (30-79%)HP:0500208
Low blood ornithine levels
Frequent (30-79%)HP:0500163
Lysinuria
Frequent (30-79%)HP:0003297
Neurodevelopmental delay
Frequent (30-79%)HP:0012758
Poor attention span
Frequent (30-79%)HP:0000736
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Seizures
Frequent (30-79%)HP:0001250
Abnormal finger-nose-finger test
Occasional (5-29%)HP:0001310
Abnormality of movement
Occasional (5-29%)HP:0100022
Arc de cercle
Occasional (5-29%)HP:0002179
Brisk deep tendon reflexes
Occasional (5-29%)HP:0001348
Citrullinuria
Occasional (5-29%)HP:0032397
Clumsiness
Occasional (5-29%)HP:0002312

Related Conditions

Periodic hyperlysinaemia(child)
Hyperlysinuria with hyperammonemia(child)
Persistent hyperlysinemia(child)
Disorder of lysine and hydroxylysine metabolism(parent)
Aminoacidemia(parent)

Quick Facts

SNOMED CT
58558003
UMLS CUI
C0268553
Fully Specified Name
Hyperlysinemia (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.