Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria

disorder

SNOMED 715338007CUI C3151476

Overview

Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria 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.

Alanine aminotransferase increased

Always present (100%)HP:0031964

Areflexia

Always present (100%)HP:0001284

Delay in head control

Always present (100%)HP:0002421

Delayed motor milestones

Always present (100%)HP:0001270

Elevated lactate:pyruvate ratio

Always present (100%)HP:0032653

Elevated serum aspartate aminotransferase

Always present (100%)HP:0031956

Generalized low muscle tone in neonate

Always present (100%)HP:0008935

Head lag

Always present (100%)HP:0032988

Hearing impairment

Always present (100%)HP:0000365

Increased urine lactate

Always present (100%)HP:0003648

Mental retardation, severe

Always present (100%)HP:0010864

Methylmalonic acidemia

Always present (100%)HP:0002912

Methymalonicaciduria

Always present (100%)HP:0012120

Peripheral hypotonia

Always present (100%)HP:0001252

Truncal hypotonia

Always present (100%)HP:0008936

3-Methylglutaconic aciduria

Very frequent (80-99%)HP:0003535

Abnormal basal ganglia MRI signal intensity

Very frequent (80-99%)HP:0012751

Abnormal circulating enzyme concentration or activity

Very frequent (80-99%)HP:0012379

Cognitive delay

Very frequent (80-99%)HP:0001263

Hypotonia, early

Very frequent (80-99%)HP:0008947

Abnormal liver function

Frequent (30-79%)HP:0002910

Decreased activity of mitochondrial complex I

Frequent (30-79%)HP:0011923

Decreased activity of mitochondrial complex IV

Frequent (30-79%)HP:0008347

Encephalopathy

Frequent (30-79%)HP:0001298

Enlarged liver

Frequent (30-79%)HP:0002240

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

Higher than normal levels of lactate in blood

Frequent (30-79%)HP:0002151

Increased CSF lactic acid

Frequent (30-79%)HP:0002490

Related Conditions

Methylmalonic acidemia(parent)

Mitochondrial DNA depletion syndrome encephalomyopathic form(parent)

Quick Facts

SNOMED CT: 715338007
UMLS CUI: C3151476
Fully Specified Name: Fatal infantile lactic acidosis co-occurrent with methylmalonic aciduria (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.