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Trait

Ketotic hypoglycemia

Low blood glucose is accompanied by elevated levels of ketone bodies in the body.

HPO HP:0012734

Summary

Also called
Ketotic low blood sugar
Body system
Laboratory abnormality

12 genes linked to Ketotic hypoglycemia

Changes in these genes cause rare conditions in which Ketotic hypoglycemia is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.

GeneHow often it is seenConditions
MC2Rmelanocortin 2 receptorVery often (80–99%)In 1 condition
MRAPmelanocortin 2 receptor accessory proteinVery often (80–99%)In 1 condition
NNTnicotinamide nucleotide transhydrogenaseVery often (80–99%)In 1 condition
STARsteroidogenic acute regulatory proteinVery often (80–99%)In 1 condition
TXNRD2thioredoxin reductase 2Very often (80–99%)In 1 condition
GYS2glycogen synthase 2Often (30–79%)In 1 condition
MRPL39mitochondrial ribosomal protein L39Often (30–79%)In 1 condition
ACAD8acyl-CoA dehydrogenase family member 8Sometimes (5–29%)In 1 condition
ACADSacyl-CoA dehydrogenase short chainSometimes (5–29%)In 1 condition
HNF1AHNF1 homeobox ASometimes (5–29%)In 1 condition
PHKBphosphorylase kinase regulatory subunit betaSometimes (5–29%)In 1 condition
SLC16A1solute carrier family 16 member 1Not recordedIn 1 condition

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Broader traits

Low blood sugar

Where this comes from

  • The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

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