Holocarboxylase synthase deficiency

disorder

SNOMED 360369003CUI C0268581

Overview

Holocarboxylase synthase deficiency 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.

3-hydroxyisovaleric aciduria

Always present (100%)HP:0033111

Elevated urinary 3-methylcrotonylglycine level

Always present (100%)HP:0033596

Feeding difficulties in infancy

Always present (100%)HP:0008872

Lacticacidosis

Always present (100%)HP:0003128

Metabolic acidosis

Always present (100%)HP:0001942

Reduced holocarboxylase synthetase activity in cultured fibroblasts

Always present (100%)HP:4000200

Eczema around the mouth

Very frequent (80-99%)HP:0011127

Growth deficiency

Very frequent (80-99%)HP:0001510

Irritable mood

Very frequent (80-99%)HP:0000737

Keratoconjunctivitis

Very frequent (80-99%)HP:0001096

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Nausea and vomiting

Very frequent (80-99%)HP:0002017

Refusing to eat

Very frequent (80-99%)HP:0002039

Seizures

Very frequent (80-99%)HP:0001250

Weight loss

Very frequent (80-99%)HP:0001824

High blood ammonia levels

Frequent (30-79%)HP:0001987

Laboured breathing

Frequent (30-79%)HP:0002098

Organic aciduria

Frequent (30-79%)HP:0001992

Tachypnea

Frequent (30-79%)HP:0002789

Ataxia

Occasional (5-29%)HP:0001251

Dermatitis

Occasional (5-29%)HP:0000964

Desquamation of skin soon after birth

Occasional (5-29%)HP:0007549

Dullness

Occasional (5-29%)HP:0001254

Hair loss

Occasional (5-29%)HP:0001596

Persistent vegetative state

Occasional (5-29%)HP:0001259

Thrombocytopenia

Occasional (5-29%)HP:0001873

Generalised decreased muscle tone

HP:0001290

Mental and motor retardation

HP:0001263

Rapid breathing

HP:0002883

Skin rash

HP:0000988

Related Conditions

Multiple carboxylase deficiency(parent)

Quick Facts

SNOMED CT: 360369003
UMLS CUI: C0268581
Fully Specified Name: Holocarboxylase synthase deficiency (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.