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Disorder of gluconeogenesis

MONDO:0019225

An inherited metabolic disease that is has its basis in the disruption of gluconeogenesis.

Also known as: gluconeogenesis disorder, inborn error of gluconeogenesis, inborn gluconeogenesis disorder, rare inborn error of gluconeogenesis

1 clinical trial for this condition and its sub-types, 0 tagged with Disorder of gluconeogenesis itself.

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Where it sits in the disease tree

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Part of

↑ Glucose metabolism disease (4139) ↑ Inborn carbohydrate metabolic disorder (370)

Sub-types of Disorder of gluconeogenesis

Fructose-1,6-bisphosphatase deficiency 1 trial
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 1 trial
Glycerol kinase deficiency, adult form 0 trials
Glycerol kinase deficiency, infantile form 0 trials
Glycerol kinase deficiency, juvenile form 0 trials
Phosphoenolpyruvate carboxykinase deficiency 0 trials
2 sub-types
- Phosphoenolpyruvate carboxykinase deficiency, cytosolic 0 trials
- Phosphoenolpyruvate carboxykinase deficiency, mitochondrial 0 trials
Pyruvate carboxylase deficiency disease 0 trials
3 sub-types
- Pyruvate carboxylase deficiency, benign type 0 trials
- Pyruvate carboxylase deficiency, infantile form 0 trials
- Pyruvate carboxylase deficiency, severe neonatal type 0 trials

Including sub-types (1) Tagged with Disorder of gluconeogenesis (0)

Not yet finished but already full! 1

Newborn screening study aims to catch rare diseases at birth

Diagnosis Ongoing

This study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…

Sponsor: RTI International • Aim: Diagnosis

Last updated Jul 03, 2026 00:00 UTC