Congenital lactic acidosis Saguenay-Lac-Saint-Jean type

disorder

SNOMED 718219002CUI C1857355

Overview

Congenital lactic acidosis Saguenay-Lac-Saint-Jean type 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.

Lacticacidosis

Always present (100%)HP:0003128

Psychomotor development deficiency

Always present (100%)HP:0001263

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Decreased activity of mitochondrial complex IV

Very frequent (80-99%)HP:0008347

Higher than normal levels of lactate in blood

Very frequent (80-99%)HP:0002151

Increased CSF lactic acid

Very frequent (80-99%)HP:0002490

Metabolic acidosis

Very frequent (80-99%)HP:0001942

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Stroke-like episode

Very frequent (80-99%)HP:0002401

Abnormality of movement

Frequent (30-79%)HP:0100022

Ataxia

Frequent (30-79%)HP:0001251

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Choreatic disease

Frequent (30-79%)HP:0002072

Decreased activity of cytochrome C oxidase in muscle tissue

Frequent (30-79%)HP:0003688

EEG with abnormally slow frequencies

Frequent (30-79%)HP:0011203

Fatty liver

Frequent (30-79%)HP:0001397

Feeding difficulties

Frequent (30-79%)HP:0011968

Focal T2 hyperintense basal ganglia lesion

Frequent (30-79%)HP:0007183

Foetal distress

Frequent (30-79%)HP:0025116

Inability to walk

Frequent (30-79%)HP:0002540

Involuntary muscle stiffness, contraction, or spasm

Frequent (30-79%)HP:0001257

Liver dysfunction, mild

Frequent (30-79%)HP:0001410

Low blood sugar

Frequent (30-79%)HP:0001943

Mental deterioration in childhood

Frequent (30-79%)HP:0002376

Multifocal EEG abnormality

Frequent (30-79%)HP:0010841

Muscle weakness

Frequent (30-79%)HP:0001324

Neuropathy

Frequent (30-79%)HP:0009830

Problems speaking

Frequent (30-79%)HP:0002465

Worsening neurological symptoms

Frequent (30-79%)HP:0002344

Related Conditions

Leigh's disease(parent)

Cytochrome-c oxidase deficiency(parent)

Inherited metabolic disorder of nervous system(parent)

Quick Facts

SNOMED CT: 718219002
UMLS CUI: C1857355
Fully Specified Name: Congenital lactic acidosis Saguenay-Lac-Saint-Jean type (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.