Iminoglycinuria: Difference between revisions
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{{SI}} | |||
{{Infobox medical condition | |||
| name = Iminoglycinuria | |||
| image = [[File:Imine.png|left|thumb|Chemical structure of an imine]] | |||
| caption = Chemical structure of an imine, related to iminoglycinuria | |||
| field = [[Nephrology]] | |||
| symptoms = [[Aminoaciduria]], [[glycinuria]], [[hyperprolinemia]] | |||
| complications = [[Developmental delay]], [[seizures]] | |||
| onset = [[Infancy]] | |||
| duration = [[Lifelong]] | |||
| causes = [[Genetic mutation]] in [[SLC36A2]], [[SLC6A20]], or [[SLC6A19]] | |||
| risks = [[Family history]] | |||
| diagnosis = [[Urine amino acid analysis]] | |||
| differential = [[Hartnup disease]], [[Cystinuria]] | |||
| treatment = [[Dietary management]] | |||
| prognosis = [[Variable]] | |||
| frequency = Rare | |||
}} | |||
[[File:Autorecessive.svg|Autosomal recessive inheritance pattern|thumb|left]] | |||
[[File:Scheme_sodium-potassium_pump-en.svg|Sodium-potassium pump mechanism|thumb|left]] | |||
'''Iminoglycinuria''' is a rare inherited metabolic disorder characterized by the excessive excretion of certain amino acids in the urine, namely proline, hydroxyproline, and glycine. This condition is generally considered benign, as affected individuals typically do not exhibit any clinical symptoms. Iminoglycinuria is inherited in an autosomal recessive manner. | '''Iminoglycinuria''' is a rare inherited metabolic disorder characterized by the excessive excretion of certain amino acids in the urine, namely proline, hydroxyproline, and glycine. This condition is generally considered benign, as affected individuals typically do not exhibit any clinical symptoms. Iminoglycinuria is inherited in an autosomal recessive manner. | ||
==Causes== | ==Causes== | ||
Iminoglycinuria is caused by a defect in the renal transport system for imino acids and glycine. This defect results in the excessive excretion of proline, hydroxyproline, and glycine in the urine. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder. | Iminoglycinuria is caused by a defect in the renal transport system for imino acids and glycine. This defect results in the excessive excretion of proline, hydroxyproline, and glycine in the urine. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder. | ||
==Symptoms== | ==Symptoms== | ||
Most individuals with iminoglycinuria do not exhibit any clinical symptoms. The condition is typically discovered incidentally during routine urine tests. In rare cases, affected individuals may exhibit mild mental retardation or developmental delay, although it is unclear whether these symptoms are directly related to the disorder. | Most individuals with iminoglycinuria do not exhibit any clinical symptoms. The condition is typically discovered incidentally during routine urine tests. In rare cases, affected individuals may exhibit mild mental retardation or developmental delay, although it is unclear whether these symptoms are directly related to the disorder. | ||
==Diagnosis== | ==Diagnosis== | ||
Iminoglycinuria is diagnosed based on the results of urine tests that reveal excessive amounts of proline, hydroxyproline, and glycine. Genetic testing may also be performed to confirm the diagnosis and identify the specific gene mutation responsible for the disorder. | Iminoglycinuria is diagnosed based on the results of urine tests that reveal excessive amounts of proline, hydroxyproline, and glycine. Genetic testing may also be performed to confirm the diagnosis and identify the specific gene mutation responsible for the disorder. | ||
==Treatment== | ==Treatment== | ||
There is currently no specific treatment for iminoglycinuria. Management of the condition typically involves regular monitoring of amino acid levels in the urine. In rare cases where symptoms are present, treatment is symptomatic and supportive. | There is currently no specific treatment for iminoglycinuria. Management of the condition typically involves regular monitoring of amino acid levels in the urine. In rare cases where symptoms are present, treatment is symptomatic and supportive. | ||
==See Also== | ==See Also== | ||
* [[Amino acid disorder]] | * [[Amino acid disorder]] | ||
* [[Metabolic disorder]] | * [[Metabolic disorder]] | ||
* [[Genetic disorder]] | * [[Genetic disorder]] | ||
==References== | ==References== | ||
<references /> | <references /> | ||
[[Category:Metabolic disorders]] | [[Category:Metabolic disorders]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Rare diseases]] | [[Category:Rare diseases]] | ||
{{stub}} | {{stub}} | ||
Latest revision as of 21:25, 9 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Iminoglycinuria | |
|---|---|
 | |
| Synonyms | N/A |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Aminoaciduria, glycinuria, hyperprolinemia |
| Complications | Developmental delay, seizures |
| Onset | Infancy |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in SLC36A2, SLC6A20, or SLC6A19 |
| Risks | Family history |
| Diagnosis | Urine amino acid analysis |
| Differential diagnosis | Hartnup disease, Cystinuria |
| Prevention | N/A |
| Treatment | Dietary management |
| Medication | N/A |
| Prognosis | Variable |
| Frequency | Rare |
| Deaths | N/A |
Iminoglycinuria is a rare inherited metabolic disorder characterized by the excessive excretion of certain amino acids in the urine, namely proline, hydroxyproline, and glycine. This condition is generally considered benign, as affected individuals typically do not exhibit any clinical symptoms. Iminoglycinuria is inherited in an autosomal recessive manner.
Causes[edit]
Iminoglycinuria is caused by a defect in the renal transport system for imino acids and glycine. This defect results in the excessive excretion of proline, hydroxyproline, and glycine in the urine. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the disorder.
Symptoms[edit]
Most individuals with iminoglycinuria do not exhibit any clinical symptoms. The condition is typically discovered incidentally during routine urine tests. In rare cases, affected individuals may exhibit mild mental retardation or developmental delay, although it is unclear whether these symptoms are directly related to the disorder.
Diagnosis[edit]
Iminoglycinuria is diagnosed based on the results of urine tests that reveal excessive amounts of proline, hydroxyproline, and glycine. Genetic testing may also be performed to confirm the diagnosis and identify the specific gene mutation responsible for the disorder.
Treatment[edit]
There is currently no specific treatment for iminoglycinuria. Management of the condition typically involves regular monitoring of amino acid levels in the urine. In rare cases where symptoms are present, treatment is symptomatic and supportive.
See Also[edit]
References[edit]
<references />
