Glucose-galactose malabsorption

disorder

SNOMED 190749000CUI C0016952

Overview

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

Research Evidence

Peer-reviewed studies linked via MeSH term "Galactosemias" from the MEDLINE/PubMed database.

Sort:

Primary ovarian insufficiency in Classic Galactosemia: a systematic review.

[object Object], [object Object], [object Object] et al. · J Endocrinol Invest · 2025

PMID: 39821528Meta-Analysis

Newborn screening for galactosaemia.

[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2020

PMID: 32567677Meta-AnalysisFull text (PMC)

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.

[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2020

PMID: 31808946Meta-AnalysisFull text (PMC)

Cognitive functioning in patients with classical galactosemia: a systematic review.

[object Object], [object Object], [object Object] et al. · Orphanet J Rare Dis · 2019

PMID: 31627760Meta-AnalysisFull text (PMC)

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

[object Object], [object Object], [object Object] et al. · Mol Genet Metab · 2018

PMID: 29580649Meta-Analysis

Newborn screening for galactosaemia.

[object Object], [object Object], [object Object] et al. · Cochrane Database Syst Rev · 2017

PMID: 29274129Meta-AnalysisFull text (PMC)

International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.

[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2017

PMID: 27858262Meta-AnalysisFull text (PMC)

Appropriateness of newborn screening for classic galactosaemia: a systematic review.

[object Object], [object Object], [object Object] et al. · J Inherit Metab Dis · 2016

PMID: 27116003Meta-Analysis

A re-evaluation of life-long severe galactose restriction for the nutrition management of classic galactosemia.

[object Object], [object Object], [object Object] et al. · Mol Genet Metab · 2014

PMID: 24857409Meta-Analysis

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia.

[object Object], [object Object], [object Object] et al. · J Clin Pharmacol · 2025

PMID: 39569553RCTFull text (PMC)

Search all PubMed articles for Glucose-galactose malabsorption

Research data from MEDLINE/PubMed

Signs & Symptoms

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

Chronic diarrhoea

Always present (100%)HP:0002028

Hypertonic dehydration

Always present (100%)HP:0001986

Dehydration

Very frequent (80-99%)HP:0001944

Diarrhea

Very frequent (80-99%)HP:0002014

Osmotic diarrhea

Very frequent (80-99%)HP:0033310

Postnatal failure to thrive

Very frequent (80-99%)HP:0001508

Weight loss

Very frequent (80-99%)HP:0001824

Abdominal swelling

Frequent (30-79%)HP:0003270

Hypernatremia

Frequent (30-79%)HP:0003228

Malnutrition

Frequent (30-79%)HP:0004395

Hypercalcemia

Occasional (5-29%)HP:0003072

Kidney stones

Occasional (5-29%)HP:0000787

Renal failure

Occasional (5-29%)HP:0000083

Vomiting

Occasional (5-29%)HP:0002013

Blood in urine

Very rare (1-4%)HP:0000790

Pyrexia

Very rare (1-4%)HP:0001945

Abnormal oral glucose tolerance

HP:0004924

Borborygmi

HP:0030143

Glucose in urine

HP:0003076

Intestinal malabsorption

HP:0002024

Metabolic acidosis

HP:0001942

Related Conditions

Malabsorption of glucose(parent)

Digestive system hereditary disorder(parent)

Recessive hereditary disorder (autosomal)(parent)

Inborn error of metabolism(parent)

Malabsorption syndrome(parent)

Neonatal gastrointestinal disorder(parent)

Neonatal metabolic disorder(parent)

Quick Facts

SNOMED CT: 190749000
UMLS CUI: C0016952
Fully Specified Name: Glucose-galactose malabsorption (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 21

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.