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Sarcosinemia
Sarcosine Dehydrogenase Defic
Presentation
- Abstract Sarcosinemia is a relatively rare autosomal recessive disorder that has a varied phenotypic presentation; rarely, it is associated with neurodevelopmental and neurological abnormalities.[ncbi.nlm.nih.gov]
- The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
- The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
- Gaskins, Brooke BA * ; Mastropaolo, John PhD * doi: 10.1097/01.WNF.0000236767.46526.1F Review Articles Abstract Author Information Authors Article Metrics Metrics Sarcosinemia is a relatively rare autosomal recessive disorder that has a varied phenotypic presentation[journals.lww.com]
Entire Body System
Disability
- Some reports have associated sarcosinemia with various symptoms including intellectual disability and other neurologic problems; growth failure; enlarged liver; cardiomyopathy; vision or hearing problems; and skeletal abnormalities.[malacards.org]
- Some reports have associated Sarcosinemia with various symptoms including: Intellectual disability and other neurologic problems Growth failure Enlarged liver Cardiomyopathy Vision or hearing problems Skeletal abnormalities Hypersacrosinemia (Source:[dovemed.com]
- Treatment Argininemia is a rare disorder and few patients have been treated from an early age, prior to onset of disabling symptoms.[genico.ch]
Poor Feeding
- Clinical manifestations include poor feeding in an infant with failure to thrive and developmental delays; however, no consistent clinical syndrome has been reported.[medical-dictionary.thefreedictionary.com]
- Clinical manifestations include poor feeding in an infant with failure to thrive and developmental delays; however, no consistent clinical syndro... Found on sarcosinemia Type: Term Pronunciation: sar′kō-si-nē′mē-ă Definitions: 1.[encyclo.co.uk]
- By 2-3 weeks, failure to thrive, unexplained vomiting, poor feeding, hypovolemia and shock develop.[genico.ch]
Sucrose Intolerance
- intolerance) - pyruvate metabolism and gluconeogenesis ( PCD, PDHA ) - Pentosuria - Renal glycosuria Lipid storage Sphingolipidoses/ Gangliosidoses : GM2 gangliosidoses ( Sandhoff disease, Tay-Sachs disease ) - GM1 gangliosidoses - Mucolipidosis type[bionity.com]
Feeding Difficulties
- Patients appear normal at birth, but begin to have feeding difficulties with vomiting, progressing to lethargy and coma. The infant may have a high-pitched cry and the odor of maple syrup may emanate from the diaper.[genico.ch]
Gastrointestinal
Failure to Thrive
- Clinical manifestations include poor feeding in an infant with failure to thrive and developmental delays; however, no consistent clinical syndrome has been reported.[medical-dictionary.thefreedictionary.com]
- A hereditary disorder of amino acid metabolism, marked by elevated levels of sarcosine in blood plasma and excretion of sarcosine in the urine, failure to thrive, irritability, muscle tremors, and impaired motor and mental development.[yourdictionary.com]
- Clinical manifestations include poor feeding in an infant with failure to thrive and developmental delays; however, no consistent clinical syndro... Found on sarcosinemia Type: Term Pronunciation: sar′kō-si-nē′mē-ă Definitions: 1.[encyclo.co.uk]
- Failure to thrive, vomiting, and hypoglycemia may be seen.[genico.ch]
Eyes
Visual Impairment
- Symptoms include visual impairment, blindness, cardiomyopathy, cranial synostosis, growth and mental retardation. Sarcosinemia is thought to be caused by a mutation in the sarcosine dehydrogenase gene.[medigoo.com]
- Aside from visual impairment, patients with gyrate atrophy are for the most part asymptomatic.[genico.ch]
Skin
Brittle Hair
- ICD 10 E70.0 ICD 9 … Wikipedia List of diseases (S) — A list of diseases in the English wikipedia.DiseasesTOC NOTOC Sa Sc Se Sh Si Sj Sn So Sp Sq Ss St Su Sw Sy aSaa Sak Sal Sar Sat Say aa Sal* Saal Bulas syndrome * Saal Greenstein syndrome * Sabinas brittle[translate.academic.ru]
Workup
- Workup of such patients includes measuring plasma amino acids and looking for succinylacetone on urine organic acid analysis.[genico.ch]
Treatment
- You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
- Treatment: Treatment is not needed for this disorder, as the condition is assumed to be benign. Certain corrective treatments are done to correct the disorder, often times done considering factors such as the extent of the disease.[medigoo.com]
- More Symptoms of Sarcosinemia » Treatments: Sarcosinemia Treatment : We are not aware of any treatment guidelines or recommendations for sarcosinemia.[familydiagnosis.com]
- The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
Prognosis
- Prognosis - Sarcosinemia Not supplied. Treatment - Sarcosinemia Not supplied. Resources - Sarcosinemia Not supplied.[checkorphan.org]
- With appropriate monitoring and therapy, there is a good prognosis for normal development.[genico.ch]
Etiology
- Etiology Mutations in the gene for sarcosine dehydrogenase, located on chromosome 9q34, have been associated with this deficiency. Genetic counseling It is transmitted in an autosomal recessive manner.[orpha.net]
- (Etiology) Sarcosinemia is sometimes caused by mutations in the SARDH gene and is inherited in an autosomal recessive manner In some cases, the cause is unknown (Source: Sarcosinemia; Genetic and Rare Diseases Information Center (GARD ) of National Center[dovemed.com]
- Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
Epidemiology
- Summary Epidemiology Prevalence has been estimated at 1:28,000 to 1:350,000 in newborn screening programs. Clinical description Sarcosinemia is most probably a benign condition without significant clinical problems.[orpha.net]
- However, recent laboratory and epidemiologic investigations have suggested that paternal exposures may be more important than previously suspected.[books.google.com]
- Genatlas disease for SARDH Gene sarcosinemia Relevant External Links for SARDH Genetic Association Database (GAD) SARDH Human Genome Epidemiology (HuGE) Navigator SARDH Atlas of Genetics and Cytogenetics in Oncology and Haematology: SARDH Cloning and[genecards.org]
Sex distribution
Age distribution
Pathophysiology
- 4421998Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993Hoffmann GFMeier-Augenstein W, St Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology[metagene.de]
- The pathophysiology and molecular biology vary among different forms of SCID, however, the lack of T-cell and B-cell function is the common endpoint in all forms of SCID.[genico.ch]
Prevention
- Currently, Sarcosinemia may not be preventable, since it is a genetic disorder.[dovemed.com]
- Prevention - Sarcosinemia Not supplied. Diagnosis - Sarcosinemia The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Sarcosinemia.[checkorphan.org]
- And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider.[wellnessadvocate.com]
- Used to prevent transplant rejection and in treatment of autoimmune disease. Skeletal formula. Pagina Successiva « » di 4[shutterstock.com]
- Avoidance of fasting is important to prevent symp- tomatic episodes.[genico.ch]