CystathionineMethylmalonic acidemiaPyridoxineDeficiencyAutosomalInherited disorderPhenylketonuriaDiagnosisHomocysteine levelsSymptoms2022UrineMetabolicClinicalMethionineGeneticGenesMTHFRAbnormalitiesEnzymeIntellectual disabilityVariantsCardiovascularDiseaseClassicalPatientsMildTreatmentPeopleCondition
Cystathionine8
- Homocystinuria or HCU is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase. (wikipedia.org)
- Bublil EM, Majtan T. Classical homocystinuria: From cystathionine beta-synthase deficiency to novel enzyme therapies. (medlineplus.gov)
- Homocystinuria due to cystathionine beta-synthase (CBS) deficiency, inherited as an autosomal recessive trait, is the most prevalent inborn error of methionine metabolism. (nih.gov)
- To gain insight into the mechanisms responsible for enhanced thromboxane (TX) A2 biosynthesis in homozygous homocystinuria due to cystathionine-beta-synthase deficiency (CBSD), we measured a series of platelet and monocyte variables in 9 homozygous and 8 obligate heterozygous CBSD patients and evaluated their relationships to thromboxane formation, as reflected by urinary excretion of its major metabolite, 11-dehydro-TXB2 (TXM). (haematologica.org)
- Deficiency of cystathionine synthase (homocystinuria I) leads to a failure of transsulfuration of precursors of cysteine, an important component of collagen. (mhmedical.com)
- Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. (nih.gov)
- Delayed diagnosis of homocystinuria by major deficiency in cystathionine beta synthase]. (bvsalud.org)
- Diagnostic tardif d'homocystinurie par déficit majeur en cystathionine beta synthase. (bvsalud.org)
Methylmalonic acidemia7
- @lilli64 , I had to look up methylmalonic acidemia with homocystinuria as I had never heard of it before. (mayoclinic.org)
- Methylmalonic acidemia with homocystinuria is an inherited disorder in which the body is unable to properly process certain nutrients from food including amino acids, lipids and cholesterol. (mayoclinic.org)
- People with this disorder have a combination of features from two separate conditions: methylmalonic acidemia and homocystinuria. (mayoclinic.org)
- Several HCFC1 gene variants (also known as mutations) have been identified in people with methylmalonic acidemia with homocystinuria, cblX type, which is one form of a disorder that causes developmental delay, eye defects, neurological problems, and blood abnormalities. (medlineplus.gov)
- This combination of imbalances leads to the signs and symptoms of methylmalonic acidemia with homocystinuria. (medlineplus.gov)
- These individuals have delayed development and other neurological problems but do not show other features of methylmalonic acidemia with homocystinuria, cblX type (described above). (medlineplus.gov)
- 121 Mendelian pathogenic or likely pathogenic variants associated with 31 inherited diseases were detected, among these hearing loss, congenital hypothyroidism, methylmalonic acidemia, methylmalonic acidemia with homocystinuria, phenylketonuria(PKU) and benign hyperphenylalaninemia accounted for half of the carrier variants. (researchsquare.com)
Pyridoxine1
- 50% of patients with homocystinuria show pyridoxine responsiveness, including 13% who can be completely controlled with pyridoxine alone. (mhmedical.com)
Deficiency2
- Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate. (wikipedia.org)
- The new diseases are homocystinuria, maple syrup urine disease, tyrosinemia type 1, isovaleric acidemia, glutaric aciduria type I, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, and carnitine deficiency. (medscape.com)
Autosomal3
- Homocystinuria is an autosomal recessively inherited defect in the transsulfuration pathway (homocystinuria I) or methylation pathway (homocystinuria II and III). (medscape.com)
- Homocystinuria is an autosomal recessive condition resulting from the accumulation in blood of the essential amino acid methionine and one of its metabolic products homocysteine. (hse.ie)
- Familial homocystinuria is an autosomal recessive genetic disorder that first manifests early in life. (osmosis.org)
Inherited disorder1
- This medication is used to treat high levels of a certain important body chemical (homocysteine) due to an inherited disorder (homocystinuria). (medscape.com)
Phenylketonuria1
- Synlogic's pipeline includes its lead program in phenylketonuria (PKU), which has demonstrated proof of concept with plans to start a pivotal, Phase 3 study in the first half of 2023, and additional novel drug candidates designed to treat homocystinuria (HCU) and enteric hyperoxaluria. (synlogictx.com)
Diagnosis2
- Homocystinurias and defects of folate and methylation metabolism: practical approaches to diagnosis and treatment. (com.es)
- Knowledge on frequency, pathophysiology, clinical manifestation, diagnosis and treatment of homocystinurias, methylation defects and genetic disorders of B-vitamin metabolism. (com.es)
Homocysteine levels1
- SYNB1353 is a novel orally-administered, non-systemically absorbed drug candidate designed to consume methionine in the gastrointestinal tract thereby lowering homocysteine levels in patients with homocystinuria (HCU). (synlogictx.com)
Symptoms5
- The signs and symptoms of homocystinuria typically develop during childhood, although some mildly affected people may not show signs and symptoms until adulthood. (medlineplus.gov)
- Researchers have not determined how excess homocysteine and related compounds lead to the signs and symptoms of homocystinuria. (medlineplus.gov)
- Consequently all infants who present clinically in later life with signs and symptoms suggestive of homocystinuria, such as dislocation of lenses, osteoporosis and inappropriate tall stature should have the disorder excluded formally by measuring plasma levels of total homocysteine. (hse.ie)
- Children with homocystinuria are unable to break down (metabolize) the amino acid homocysteine, which, along with certain toxic by-products, builds up to cause a variety of symptoms. (msdmanuals.com)
- Symptoms of homocystinuria range from mild to severe. (msdmanuals.com)
20221
- CAMBRIDGE, Mass. , Aug. 23, 2022 (GLOBE NEWSWIRE) -- Synlogic, Inc. (Nasdaq: SYBX), a clinical-stage biotechnology company developing medicines for metabolic and immunological diseases through its proprietary approach to synthetic biology, today announced that the U.S. Food and Drug Administration (FDA) has granted Fast Track designation to SYNB1353 for the potential treatment of homocystinuria (HCU). (synlogictx.com)
Urine5
- Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. (wikipedia.org)
- The term homocystinuria describes an increased excretion of the thiol amino acid homocysteine in urine (and incidentally, also an increased concentration in plasma). (wikipedia.org)
- Homocystinuria is a disorder of methionine metabolism, leading to an abnormal accumulation of homocysteine and its metabolites (homocystine, homocysteine-cysteine complex, and others) in blood and urine. (medscape.com)
- In homocystinuria , "homocysteine" is a metabolite of the amino acid methionine, and "uria" means, a substance present in urine. (osmosis.org)
- So people with homocystinuria have large amounts of homocysteine in their urine, as well as other problems in the connective tissue, muscles, brain, heart, and blood vessels. (osmosis.org)
Metabolic2
- Clinical syndromes resulting from each of these metabolic abnormalities have been termed homocystinuria I, II, and III. (medscape.com)
- Prof. Kruger joins the Journal of Inherited Metabolic Disease Podcast to talk about homocystinuria, successful trials in gene therapy, why it costs so much to make viruses and what inspires him. (hcunetworkaustralia.org.au)
Clinical2
- The Patient-Expert Meetings bring together leaders in the field of homocystinuria research, clinical care, nutrition and advocacy with patients, families and caregivers. (hcunetworkaustralia.org.au)
- Seeking volunteers with homocystinuria to join a paid clinical research study. (rareshare.org)
Methionine1
- Two other interrelated pathways of methionine metabolism can produce accumulation of homocysteine and its metabolites: defective methylcobalamin synthesis (homocystinuria II) and abnormality in MTHFR (homocystinuria III). (mhmedical.com)
Genetic1
- Homocysteinemia may be due to a genetic predisposition to abnormal activity in the same pathways as homocystinuria. (medscape.com)
Genes2
- Variants (also called mutations) in the CBS , MTHFR , MTR , MTRR , and MMADHC genes cause homocystinuria. (medlineplus.gov)
- Rarely, homocystinuria can be caused by variants in several other genes. (medlineplus.gov)
MTHFR1
- An abnormal gene on chromosome 1 has been proposed as the cause of reduction in methylene tetrahydrofolate reductase ([MTHFR] or homocystinuria III). (mhmedical.com)
Abnormalities1
- Our results argue against abnormalities of platelet and monocyte function being responsible for the abnormally high in vivo TXA2 biosynthesis in homocystinuria due to CBSD. (haematologica.org)
Enzyme2
- I was diagnosed at the age of 2 that I had a condition called Homocystinuria, which is due to the absence of an enzyme in my body. (hcusupport.com)
- Homocystinuria is caused by a lack of the enzyme needed to metabolize homocysteine. (msdmanuals.com)
Intellectual disability1
- Less common forms of homocystinuria can cause intellectual disability, slower growth and weight gain (failure to thrive), seizures, and problems with movement. (medlineplus.gov)
Variants1
- Variants in the CBS gene cause classic homocystinuria. (medlineplus.gov)
Cardiovascular1
- 01). This intervention in Dutch patients significantly reduces the risk of cardiovascular disease and other sequelae of classical homocystinuria syndrome. (nih.gov)
Disease1
- Classical Homocystinuria Disease. (mhmedical.com)
Classical2
- Our Scientific Advisory Board's co-chair, Professor Warren Kruger is pioneering gene therapy for classical homocystinuria. (hcunetworkaustralia.org.au)
- Do you have classical homocystinuria? (rareshare.org)
Patients1
- Some basic information about what kinds of food Homocystinuria patients can eat is given in diet section. (hcusupport.com)
Mild1
- A mild elevation of plasma homocysteine may exist without homocystinuria. (medscape.com)
Treatment1
- Treatment of homocystinuria. (bmj.com)
People3
- Classic homocystinuria affects at least 1 in 200,000 to 335,000 people worldwide. (medlineplus.gov)
- Although people who carry one altered copy and one normal copy of the CBS gene do not have homocystinuria, they are more likely than people without a CBS variant to have shortages (deficiencies) of vitamin B12 and folic acid. (medlineplus.gov)
- In 1999, this site was developed in order to help people with HOMOCYSTINURIA( HCU ). (hcusupport.com)
Condition1
- Homocystinuria (HCU) is an inherited condition caused by an altered gene. (hse.ie)