Mitochondrial trifunctional protein deficiency

disorder

SNOMED 237999008CUI C1969443

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Diminished acetyl-CoA C-acyltransferase activity in cultured fibroblasts

Always present (100%)HP:6001024

Diminished long-chain-enoyl-CoA hydratase activity in cultured fibroblasts

Always present (100%)HP:6001023

Elevated circulating acylcarnitine concentration

Always present (100%)HP:0045045

Areflexia

Very frequent (80-99%)HP:0001284

Elevated serum creatine phosphokinase

Very frequent (80-99%)HP:0003236

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Low blood sugar

Very frequent (80-99%)HP:0001943

Photophobia

Very frequent (80-99%)HP:0000613

Poor exercise tolerance

Very frequent (80-99%)HP:0003546

Abnormal ERG

Frequent (30-79%)HP:0000512

Cardiomyopathy, hypertrophic

Frequent (30-79%)HP:0001639

Central hypotonia

Frequent (30-79%)HP:0001252

Chronic heart failure

Frequent (30-79%)HP:0001635

Chronic hepatic failure

Frequent (30-79%)HP:0100626

Decreased patellar reflex

Frequent (30-79%)HP:0011808

Difficulty walking up stairs

Frequent (30-79%)HP:0003551

Diffuse hepatic steatosis

Frequent (30-79%)HP:0006555

Dullness

Frequent (30-79%)HP:0001254

Elevated serum aspartate aminotransferase

Frequent (30-79%)HP:0031956

Failure to thrive in first year of life

Frequent (30-79%)HP:0001531

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

High blood ammonia levels

Frequent (30-79%)HP:0001987

Laboratory abnormality

Frequent (30-79%)HP:0001939

Lacticacidosis

Frequent (30-79%)HP:0003128

Left ventricular wall hypertrophy

Frequent (30-79%)HP:0001712

Low blood calcium levels

Frequent (30-79%)HP:0002901

Lower limb muscle weakness

Frequent (30-79%)HP:0007340

Mental and motor retardation

Frequent (30-79%)HP:0001263

Muscle spasm

Frequent (30-79%)HP:0003394

Muscle weakness

Frequent (30-79%)HP:0001324

Related Conditions

Isolated long chain hydroxyacyl-CoA dehydrogenase deficiency(child)

Combined long chain hydroxyacyl-CoA dehydrogenase deficiency(child)

3-Ketoacyl-CoA triolase deficiency(child)

Deficiency of unsaturated acyl-CoA hydratase(child)

Fatty acid oxidation defect(parent)

Quick Facts

SNOMED CT: 237999008
UMLS CUI: C1969443
Fully Specified Name: Mitochondrial trifunctional protein 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.