Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

glycoprotein metabolism disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

glycoprotein metabolism disease

MONDO:0045010

Also known as:disorder of glycoprotein metabolic processdisorder of glycoprotein metabolismglycoprotein metabolic process disease

Overview

A disease that has its basis in the disruption of glycoprotein metabolic process.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) is a multisystemic neurodevelopmental disorder in which individuals most commonly exhibit a tetrad of developmental delay / intellectual disability, hyperkinetic movement disorder, hypolacrima, and elevated transaminases during early childhood [, , , , ]. Diagnosis has been achieved at ages ranging from three months to 20 years, mostly through broad molecular testing, such as exome analysis. While most individuals with NGLY1-CDDG survive into early adulthood, with a relatively stable clinical course , death during infancy from unclear causes has been reported.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Formal diagnostic criteria have not been established.

Suggestive Findings

NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG) should be suspected in individuals with the following clinical features and supportive laboratory findings. Clinical features include:

Developmental delay / intellectual disability, most often in the severe to profound range

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for glycoprotein metabolism disease. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with NGLY1-related congenital disorder of deglycosylation (NGLY1-CDDG), the evaluations summarized (if not performed as part of the initial evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis of NGLY1-CDDG

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

In the absence of formal surveillance guidelines, the authors recommend the following:

Annual follow up by:
Pediatrician or internist
Physical medicine and rehabilitation medicine

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for glycoprotein metabolism disease.

247 publications have been identified in PubMed for glycoprotein metabolism disease. Kisho has analyzed 68 by research type. Research spans Basic Science / Preclinical (68%), Review / Meta-Analysis (21%), and Gene Therapy / Novel Therapeutics (6%).

Research Type	Count	% of Total
Laboratory research	46	68%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 4:32 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

System/Concern	Evaluation	Comment
Eyes	Ophthalmologic eval for hypolacrima retinal disease	—
ENT/Mouth	Auditory brain stem evoked potentials	—
Respiratory	Sleep study	If review of systems reveals snoring or symptoms concerning for sleep apnea
Gastrointestinal	Nutrition eval to optimize intake	Feeding swallowing eval if indicated; Transaminase levels; Eval for constipation
Musculoskeletal	Radiologic orthopedic assessment incl DXA scan	To evaluate bone health help manage scoliosis, coxa valga, /or contractures
Skin	QSWEAT analysis to evaluate for hypohydrosis	Neurologic
Endocrinologic	Vitamin D level	To assess for vitamin D deficiency Hematologic/
Lymphatic	Protein C; factor II, IX, XI; fibrinogen levels	Consultation w/hematologist if abnormal Miscellaneous/
Other	Speech language eval	Referral to speech therapist if indicated Rehabilitation team eval
Treatment of Manifestations in Individuals with NGLY1-CDDG Manifestation/Concern	Treatment	Considerations/Other
Hypolacrima	Lubricating eye drops /or bland ointments	—
Hearing loss	Standard treatment	See Hereditary Hearing Loss and Deafness Overview.
Sleep apnea	Routine management	—
Oromotor deficits leading to feeding problems	Feeding therapy; supplemental tube feeding if indicated	Referral to gastroenterologist
Constipation	Standard management	Referral to gastroenterologist if refractory to typical medical management
Abnormal hematologic /or gastroenterologic labs	Follow up w/hematologist gastroenterologist	—
Scoliosis osteopenia	Routine management	—
Hypohydrosis	Adequate access to water cool environment (AC, wet T-shirt, /or spray bottle of water)	Cooling vests may be helpful in hot climates.
Seizures	Standard treatment	Referral to neurologist for those w/refractory or severe seizures
Vitamin D deficiency	Supplemental vitamin D	—
Any condition requiring surgical intervention	Surgery best performed in centers w/surgeons anesthesiologists experienced in care of those w/metabolic disorders special needs	AC = air conditioning The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country. Ages 0-3 years.

Kisho

glycoprotein metabolism disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

glycoprotein metabolism disease

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Establishing the Diagnosis

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications