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inborn disorder of amino acid transport - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

inborn disorder of amino acid transport

MONDO:0019216

Also known as:inborn disorder of amino acid absorption and transportdisorder of amino acid absorption and transport

Overview

OnsetINFANTILE, ADULT, CONGENITAL, ANTENATAL, CHILDHOOD, NEONATAL, JUVENILE

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.

Age of onset: infancy, adulthood, at birth, before birth, childhood, newborn period, adolescence.

GeneReviews

Clinical Guidance

Although phenotypes may overlap, three clinical phenotypes of cystinosis are recognized: nephropathic (the most severe form that presents in infancy), later-onset (juvenile), and non-nephropathic (ocular) cystinosis .

Nephropathic Cystinosis

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

Suggestive Findings

Nephropathic cystinosis should be suspected in infants and young children with the following clinical, laboratory, and imaging features and family history.

Clinical features

Typically, birth weight and initial growth are normal. Poor weight gain and growth deficiency occurs by age six to 12 months.
Vomiting and feeding difficulties

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 inborn disorder of amino acid transport. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients is available, including clinical recommendations [, , , ].

Evaluations Following Initial Diagnosis

Table 3.

Cystinosis: Recommended Evaluations Following Initial Diagnosis

Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Clinical and laboratory examinations should be performed in individuals with nephropathic cystinosis according to disease severity and may include renal, endocrine, ophthalmologic, neurologic, and cardiac examinations . Table 6. Cystinosis: Recommended Surveillance

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 inborn disorder of amino acid transport.

99 publications have been identified in PubMed for inborn disorder of amino acid transport. Research spans Basic Science / Preclinical (41%), Review / Meta-Analysis (22%), and Case Report / Case Series (20%).

Research Type	Count	% of Total
Laboratory research	40	41%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79166

GARD

Genetic and Rare Diseases Info Center

GARD:18948

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?

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GeneReviews

Differential Diagnosis

Renal tubular Fanconi syndrome. Untreated nephropathic cystinosis is the most common identifiable cause of renal tubular Fanconi syndrome in childhood. Genetic disorders associated with renal tubular Fanconi syndrome are listed in . Table 2. Genetic Disorders Associated with Renal Tubular Fanconi Syndrome in the Differential Diagnosis of Cystinosis

Gene(s)	Disorder	MOI	Features of Disorder	Comment
Wilson disease	AR	Can manifest in individuals age 3 yrs to 70 yrs as hepatic, neurologic, or psychiatric disturbances, or a combination of these. Other multisystem involvement can include eyes (Kayser-Fleischer rings), hemolytic anemia, kidneys, endocrine glands, heart.	Findings in common w/cystinosis are renal Fanconi syndrome occurrence of eye findings. The absence of CKD in Wilson disease distinguishes it from cystinosis. CLCN5 OCRL	—
Dent disease	XL	Disorder of proximal renal tubular dysfunction characterized by LMW proteinuria, hypercalciuria, at least 1 additional finding (e.g., nephrocalcinosis, nephrolithiasis, hematuria, hypophosphatemia, CKD).	Finding in common w/cystinosis is renal tubular dysfunction. FAH	—
Tyrosinemia type I	AR	Usually presents in young infants w/severe liver involvement or later in the 1st yr w/liver dysfunction renal tubular dysfunction assoc w/poor growth rickets. G6PC1 SLC37A4	—	—
Glycogen storage disease type I	AR	Characterized by accumulation of glycogen fat in liver kidneys resulting in hepatomegaly nephromegaly. Severely affected infants present in neonatal period w/severe hypoglycemia due to fasting intolerance.	—	—
Classic galactosemia	AR	Can result in feeding problems, poor growth, hepatocellular damage, bleeding, E coli sepsis in untreated infants. Both tubular reabsorption glomerular filtration can be impaired.	—	—
OCRL	Lowe syndrome (oculocerebrorenal syndrome)	XL	In males, Lowe syndrome involves eyes (cataracts, glaucoma, decreased visual acuity), CNS (hypotonia, ID), kidneys (Fanconi syndrome). Slowly progressive glomerulosclerosis kidney failure are often noted after age 10 yrs.	Similar renal findings in Lowe syndrome cystinosis.

Source: GeneReviews — "Cystinosis"

Kisho

inborn disorder of amino acid transport

Overview

Clinical Presentation

Clinical Guidance

Nephropathic Cystinosis

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Growth/Nutrition

Kidney incl glomerular function

Dental

Endocrine

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

inborn disorder of amino acid transport

Overview

Clinical Presentation

Clinical Guidance

Nephropathic Cystinosis

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Growth/Nutrition

Kidney incl glomerular function

Dental

Endocrine

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications