Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

disorder

SNOMED 721236002CUI C4303473

Overview

Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase 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.

Decreased 3-hydroxyacyl-CoA dehydrogenase level

Always present (100%)HP:0100950

Abnormal acetylcarnitine profile

Very frequent (80-99%)HP:0012071

Confusion

Very frequent (80-99%)HP:0001289

Diarrhea

Very frequent (80-99%)HP:0002014

Dicarboxylic aciduria

Very frequent (80-99%)HP:0003215

Elevated liver enzymes

Very frequent (80-99%)HP:0002910

Fasting hyperinsulinemia

Very frequent (80-99%)HP:0008283

Fatty liver

Very frequent (80-99%)HP:0001397

Hyperinsulinemia hypoglycemia

Very frequent (80-99%)HP:0000825

Hypoglycemic encephalopathy

Very frequent (80-99%)HP:0006929

Hypoglycemic seizures

Very frequent (80-99%)HP:0002173

Hypoketotic hypoglycemia

Very frequent (80-99%)HP:0001985

Hypotonia, in neonatal onset

Very frequent (80-99%)HP:0001319

Inactivity

Very frequent (80-99%)HP:0001254

Increased C-peptide level

Very frequent (80-99%)HP:0030796

Increased circulating free fatty acid level

Very frequent (80-99%)HP:0030781

Neonatal hypoglycemia

Very frequent (80-99%)HP:0001998

Short stature, proportionate

Very frequent (80-99%)HP:0003508

Small for gestational age infant

Very frequent (80-99%)HP:0001511

Vomiting

Very frequent (80-99%)HP:0002013

Decreased plasma carnitine

Occasional (5-29%)HP:0003234

Delayed motor milestones

Occasional (5-29%)HP:0001270

Feeding difficulties in infancy

Occasional (5-29%)HP:0008872

High blood ammonia levels

Occasional (5-29%)HP:0001987

Lacticacidemia

Occasional (5-29%)HP:0003128

Low factor II activity

Occasional (5-29%)HP:0008151

Mildly elevated creatine kinase

Occasional (5-29%)HP:0008180

Neuropathy

Occasional (5-29%)HP:0009830

Pigmentary retinal deposits

Occasional (5-29%)HP:0000580

Undergrowth

Occasional (5-29%)HP:0001508

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Congenital disease(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form(parent)

Quick Facts

SNOMED CT: 721236002
UMLS CUI: C4303473
Fully Specified Name: Hyperinsulinism due to short chain 3-hydroxyacyl-coenzyme A dehydrogenase 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.