Porphobilinogen synthase deficiency

disorder

SNOMED 64081000CUI C0268328

Overview

Porphobilinogen synthase deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Treatments & Interventions

Givosiran

substance

Givosiran sodium

substance

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Elevated urinary delta-aminolevulinic acid

Always present (100%)HP:0003163

Peripheral hypotonia

Always present (100%)HP:0001252

Poor weight gain

Always present (100%)HP:0001508

Respiratory paralysis

Always present (100%)HP:0002203

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Abnormal circulating porphyrin concentration

Frequent (30-79%)HP:0010472

Abnormal erythrocyte enzyme concentration or activity

Frequent (30-79%)HP:0030272

Abnormality of the nervous system

Frequent (30-79%)HP:0000707

Gastro pain

Frequent (30-79%)HP:0002027

Increased erythrocyte protoporphyrin concentration

Frequent (30-79%)HP:0012187

Increased fecal coproporphyrin 3

Frequent (30-79%)HP:0033010

Increased urinary porphobilinogen

Frequent (30-79%)HP:0012217

Muscle weakness

Frequent (30-79%)HP:0001324

Peripheral neuropathy

Frequent (30-79%)HP:0009830

Purple urine

Frequent (30-79%)HP:0040322

Abdominal swelling

Occasional (5-29%)HP:0003270

Abnormal fear/anxiety-related behavior

Occasional (5-29%)HP:0100852

Abnormality of the respiratory system

Occasional (5-29%)HP:0002086

Altered consciousness or cognition

Occasional (5-29%)HP:0031258

Ankle flexion contracture

Occasional (5-29%)HP:0006466

Autism

Occasional (5-29%)HP:0000717

Confusion

Occasional (5-29%)HP:0001289

Constipation

Occasional (5-29%)HP:0002019

Depression

Occasional (5-29%)HP:0000716

Diarrhea

Occasional (5-29%)HP:0002014

Difficulty articulating speech

Occasional (5-29%)HP:0001260

Episodic vomiting

Occasional (5-29%)HP:0002572

Excessive, persistent worry and fear

Occasional (5-29%)HP:0000739

Fluctuations in consciousness

Occasional (5-29%)HP:0007159

Functional motor deficit

Occasional (5-29%)HP:0004302

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Specific enzyme deficiency(parent)

Inborn error of metabolism(parent)

Congenital porphyria(parent)

Quick Facts

SNOMED CT: 64081000
UMLS CUI: C0268328
Fully Specified Name: Porphobilinogen synthase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30
Known Treatments: 2

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.