Deficiency of pyrroline-5-carboxylate reductase

disorder

SNOMED 124177001CUI C2931835

Overview

Deficiency of pyrroline-5-carboxylate reductase 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.

Reduced tissue delta-1-pyrroline-5-carboxylate dehydrogenase activity

Always present (100%)HP:6000695

Abnormal cerebrospinal fluid morphology

Very frequent (80-99%)HP:0002921

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Behavioral symptoms

Very frequent (80-99%)HP:0000708

Cognitive delay

Very frequent (80-99%)HP:0001263

Elevated urinary hydroxyproline

Very frequent (80-99%)HP:0003080

Epilepsy

Very frequent (80-99%)HP:0001250

Hyperprolinemia

Very frequent (80-99%)HP:0008358

Increased urine alpha-ketoglutarate concentration

Very frequent (80-99%)HP:0012402

Mental-retardation

Very frequent (80-99%)HP:0001249

Proline high in urine

Very frequent (80-99%)HP:0003137

Chronic extreme exhaustion

Frequent (30-79%)HP:0012432

EEG with generalised sharp slow waves

Frequent (30-79%)HP:0011199

Elevated csf protein

Frequent (30-79%)HP:0002922

Generalised-onset seizure

Frequent (30-79%)HP:0002197

Hyperglycinemia

Frequent (30-79%)HP:0002154

Increased blood alanine

Frequent (30-79%)HP:0003348

Muscle spasm

Frequent (30-79%)HP:0003394

Poor exercise tolerance

Frequent (30-79%)HP:0003546

Reduced vitamin b6 levels

Frequent (30-79%)HP:0008326

Speech delay

Frequent (30-79%)HP:0000750

Trouble sleeping

Frequent (30-79%)HP:0002360

Unsteady walk

Frequent (30-79%)HP:0002317

Absent deep tendon reflexes

Occasional (5-29%)HP:0001284

Anxiety disease

Occasional (5-29%)HP:0000739

ASD

Occasional (5-29%)HP:0000729

Confusion

Occasional (5-29%)HP:0001289

Deglutition disorder

Occasional (5-29%)HP:0002015

Depressive episode

Occasional (5-29%)HP:0000716

Diarrhea

Occasional (5-29%)HP:0002014

Related Conditions

Specific enzyme deficiency(parent)

Quick Facts

SNOMED CT: 124177001
UMLS CUI: C2931835
Fully Specified Name: Deficiency of pyrroline-5-carboxylate reductase (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.