Inborn carbohydrate metabolic disorder

Summary

Inborn carbohydrate metabolic disorder (MONDO:0019214) is a disease (an umbrella term covering 18 Mondo subtypes) with 6 GWAS associations across 6 studies and 4 clinical trials. Top therapeutic interventions include lipoic acid, alpha. A subtype of inborn errors of metabolism — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 18 Mondo subtypes
• GWAS associations: 6
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	inborn carbohydrate metabolic disorder
Mondo ID	MONDO:0019214
MeSH	D002239
Orphanet	79161
DOID	DOID:2978
NCIT	C97089
UMLS	C0007001
MedGen	2825
GARD	0018946
MedDRA	10061023
Is cancer (heuristic)	no

Also known as: carbohydrate metabolism disorder · inborn carbohydrate metabolic process disorder · inborn error of carbohydrate metabolic process · rare inborn error of carbohydrate metabolic process

Data availability: 6 GWAS associations (6 studies).

Disease family

This is a subtype of inborn errors of metabolism. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › inborn errors of metabolism › inborn carbohydrate metabolic disorder

Related subtypes (92): thiopurine metabolic disease, hypercalcemia, infantile, hypermanganesemia with dystonia, abdominal obesity-metabolic syndrome, plasma protein metabolism disease, inherited lipid metabolism disorder, lysosomal storage disease, striatonigral degeneration, inborn metal metabolism disorder, inborn vitamin metabolic disorder, chondrocalcinosis 2, Ehlers-Danlos syndrome, spondylodysplastic type, fish eye disease, aromatase excess syndrome, spondyloepiphyseal dysplasia with congenital joint dislocations, hypertriglyceridemia 1, autosomal dominant myoglobinuria, diastrophic dysplasia, hemolytic anemia due to diphosphoglycerate mutase deficiency, multiple epiphyseal dysplasia type 4, atelosteogenesis type II, inherited threoninemia, inborn glycerol kinase deficiency, achondrogenesis type IB, diabetes mellitus, noninsulin-dependent, 1, diabetes mellitus, noninsulin-dependent, 2, renal tubular acidosis, distal, 3, with or without sensorineural hearing loss, diabetes mellitus, noninsulin-dependent, 3, hypercholesterolemia, familial, 4, hypoalphalipoproteinemia, primary, 1, autosomal recessive proximal renal tubular acidosis, diabetes mellitus, noninsulin-dependent, 4, normophosphatemic familial tumoral calcinosis, apolipoprotein c-III deficiency, hypotonia-failure to thrive-microcephaly syndrome, chondrodysplasia with joint dislocations, gPAPP type, gluthathione peroxidase deficiency, congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, diabetes mellitus, noninsulin-dependent, 5, congenital disorder of glycosylation, monogenic diabetes, 2-hydroxyglutaric aciduria, familial hypoparathyroidism, familial intrahepatic cholestasis, inborn aminoacylase deficiency, disorder of lysosomal-related organelles, inborn disorder of porphyrin metabolism, disorder of metabolite absorption and transport, autosomal dominant proximal renal tubular acidosis, neurodegeneration with brain iron accumulation, ferro-cerebro-cutaneous syndrome, familial hypocalciuric hypercalcemia, hypophosphatasia, hereditary amyloidosis, peroxisomal disease, inborn disorder of amino acid and other organic acid metabolism, inborn disorder of energy metabolism, inborn disorder of biogenic amine metabolism and transport, inborn disorder of purine or pyrimidine metabolism, spondyloepimetaphyseal dysplasia, PAPSS2 type, hereditary lipodystrophy, hereditary recurrent myoglobinuria, DNA repair disease, 4-hydroxyphenylacetic aciduria, 5-nucleotidase syndrome, antigen-peptide-transporter 2 deficiency, APO A-i deficiency, cardiomyopathy hypogonadism metabolic anomalies, deficiency of coenzyme q cytochrome c reductase, defective apolipoprotein b-100, sulfide quinone oxidoreductase deficiency, congenital disorder of deglycosylation, hypoalphalipoproteinemia, primary, 2, uridine-cytidineuria, NAD(P)HX dehydratase deficiency, inborn disorder of aspartate family metabolism, weinstein kliman scully syndrome, glycoprotein metabolism disease, inherited thyroid metabolism disease, tumoral calcinosis, hyperphosphatemic, familial, 2, tumoral calcinosis, hyperphosphatemic, familial, 3, combined ApoA-I and ApoC-III deficiency, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome, tumoral calcinosis, hyperphosphatemic, familial, 1, Waldenstrom macroglobulinemia, mucopolysaccharidosis or mucopolysaccharidosis-like disorder, disorder of peptide and amine metabolism, CFTR-related metabolic syndrome/CF screen positive, inconclusive diagnosis, Lane Hamilton syndrome, SQSTM1-related multisystem proteinopathy, hypertriglyceridemia 2, autosomal dominant dopa-responsive dystonia

Subtypes (18): GLUT1 deficiency syndrome, disorder of glycogen metabolism, primary hyperoxaluria, G6PD deficiency, hyperinsulinemic hypoglycemia, multiple carboxylase deficiency, disorder of glycolysis, disorder of fructose metabolism, disorder of galactose metabolism, disorder of carbohydrate transmembrane transport and absorption, disorders of pentose/polyol metabolism, pyruvate dehydrogenase deficiency, disorder of gluconeogenesis, mucopolysaccharidosis, oligosaccharidosis, lactose intolerance, congenital disorder of deglycosylation 1, disorder of galactose and fructose metabolism

Genetics & variants

GWAS landscape

6 GWAS associations across 6 studies. Top hits map to 4 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs560887	5e-22	SPC25, G6PC2	T	0.13
rs17476364	6e-17	HK1	T	0.18
chr10:71099109	7e-14		A	0.17
rs741037	5e-13	GCK	G	0.09
chr7:44223942	3e-12		G	0.12

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475711	Verma A	2024	12,349	426,073	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477380	Verma A	2024	5,585	111,218	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479923	Verma A	2024	5,585	111,218	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477379	Verma A	2024	2,347	55,373	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481623	Verma A	2024	278	6,304	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435751	Zhou W	2018	163	408,798	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	5
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	2
unknown	2
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs560887	2	168906638	T>A,C,G	0.237	intron_variant	SPC25, G6PC2	5e-22	Tier 4: intronic/intergenic
rs17476364	10	69334748	T>C	0.079	intron_variant	HK1	6e-17	Tier 4: intronic/intergenic
chr10:71099109				0.104			7e-14	Tier 4: intronic/intergenic
rs741037	7	44193234	G>A	0.194	intergenic_variant	GCK	5e-13	Tier 4: intronic/intergenic
chr7:44223942				0.174			3e-12	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03902327	Not specified	UNKNOWN	N-acetyl-cysteine and Carbohydrate Metabolism Disorder in Obese Women
NCT05558488	Not specified	COMPLETED	The Effect of a Meatless,Keto Restrictive Diet on Body Composition,Strength Capacity,Oxidative Stress,Immune Response
NCT05571748	Not specified	UNKNOWN	Oxidative Stress, Carbohydrate Metabolism Disorders and G6PD Deficiency
NCT06338969	Not specified	UNKNOWN	The Impact of Different Carbohydrate Restriction After a Gastric Bypass on the Ketosis and Ketoacidosis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
LIPOIC ACID, ALPHA	3	1