Last update 01 Nov 2024

Homocysteinemia

Last update 01 Nov 2024

Basic Info

Synonyms

Homocysteinaemia, Homocysteinemia, homocysteinemia

+ [4]

Introduction-

Drugs associated with Homocysteinemia

Folic Acid

Target

Folate receptor

Mechanism

Folate receptor modulators

Active Org.

Beijing Silian Pharmaceutical Co., Ltd. [+2]

Originator Org.

Wyeth Pharmaceuticals LLC

Active Indication

Anemia, Megaloblastic [+3]

Inactive Indication

Neural Tube Defects

Drug Highest PhaseApproved

First Approval Ctry. / Loc.

First Approval Date02 Jun 1947

Clinical Trials associated with Homocysteinemia

ChiCTR2100047709 / CompletedNot ApplicableIIT

Study on the effectiveness of vitamin B12 treatment for methylmalonic acidemia combined with homocysteinemia (CblC type)

Start Date23 Jun 2021

Sponsor / Collaborator-

NCT05080153 / CompletedNot ApplicableIIT

The Effects of Vitamin Supplementation Containing L-Methylfolate (Ocufolin® Forte) on Retinal Venous Pressure and Homocysteine Plasma Levels in Patients With Glaucoma

The impact of targeted vitamin supplementation on retinal venous pressure (RVP) and steady state pattern ERG (SSpERG) in patients with RVP 15mmHg or more above intra-ocular pressure (IOP) and serum homocystein 12µmol/l or more, with signs of progression in spite of adequate IOP control, as evidenced by SSpERG abnormality with or without structural progression or visual field progression,

Start Date15 Nov 2019

Sponsor / Collaborator-

NCT00032435 / CompletedPhase 3IIT

CSP #453 - Homocysteinemia in Kidney and Endstage Renal Disease Study (HOST)

The primary objective of this study is to test the hypothesis that administration of folate, pyridoxine (vitamin B6) and cyanocobalamin (vitamin B12) in high doses to patients with advanced chronic renal failure or end stage renal disease and abnormally high plasma homocysteine levels will lower the homocysteine levels and the death rate compared to patients who receive placebo. The secondary objective is to test the hypothesis that intake of the vitamins compared to placebo decreases the incidence of myocardial infarction, disabling stroke, and amputation of a lower extremity and, in hemodialysis patients, thrombosis of the vascular access.

Start Date01 May 2001

Sponsor / Collaborator

US Department of Veterans Affairs (District of Columbia)

[+2]

100 Clinical Results associated with Homocysteinemia

100 Translational Medicine associated with Homocysteinemia

0 Patents (Medical) associated with Homocysteinemia

663

Literatures (Medical) associated with Homocysteinemia

01 Aug 2024·Journal of Integrative and Complementary Medicine

Metabolic and Environmental Biomarkers in Mild Cognitive Impairment and Dementia: An Exploratory Study

Article

Author: Lippa, Carol F ; Lyon, Abigail C ; Eiser, Arnold R

Objective: To determine the frequency with which suspected pathogenic factors, including metals and metabolites that might contribute to Alzheimer's disease (AD), may be found in patients with cognitive impairment through commonly available blood tests. Methods: A variety of serum studies, including metals, ammonia, homocysteine, vitamin B12, folate, thyroid tests, metabolic products, and inflammatory markers, were measured in two cohorts: one meeting mild cognitive impairment (MCI) criteria and the other meeting mild-to-moderate dementia (DE) criteria. Medications these patients received were reviewed. Results: Metal abnormalities were detected in over half the subjects, including evidence of mercury, lead, and arsenic elevation as well as instances of excessive essential metals, iron (Fe), and copper. Some metal aberration was detected in 64% of the DE group and 66% of the MCI group. Females were more likely to have elevated copper, consistent with hormonal effects on copper excretion. Homocysteinemia was the most common abnormality, detected in 71% with DE and 67% with MCI, while methylmalonic acid was not elevated. Slight hyperammonemia was moderately common (38%) suggesting a hepatic factor in this subset. Findings of moderate insulin resistance were present in nearly half (44% DE, 52% MCI). Sixty of 65 (92%) had at least one abnormal biomarker and 60% had two or more. The most common drug taken by the total cohort was proton pump inhibitors at 22% DE and 38% MCI. Conclusions: This study suggests that both toxic metals and excessive vital metals such as copper and iron, as well as common metabolic and hepatic factors are detectable at both stages of MCI and DE. There appears to be a multiplicity of provocative factors leading to DE. Individualized interventions based on these parameters may be a means to reduce cognitive decline leading to DE. A more comprehensive prospective study of these environmental and metabolic factors with corrective early interventions appears warranted.

02 Jun 2024·Zhonghua er ke za zhi = Chinese journal of pediatrics

[Clinical features and follow-up study on 55 patients with adolescence-onset methylmalonic acidemia].

Article

Author: Chen, Z H ; Li, M Q ; Cao, H Q ; Lu, M ; Lu, X P ; Zheng, H ; Song, J Q ; Zhang, Y ; Ding, Y ; Zhang, H T ; Wang, Y Q ; Yang, Y L ; Chen, Y X ; He, R X ; Wang, Q ; Dong, H ; Ma, X ; Jin, Y

Objective: To investigate the clinical features and outcomes of adolescence-onset methylmalonic acidemia (MMA) and explore preventive strategies. Methods: This was a retrospective case analysis of the phenotypes, genotypes and prognoses of adolescence-onset MMA patients. There were 55 patients diagnosed in Peking University First Hospital from January 2002 to June 2023, the data of symptoms, signs, laboratory results, gene variations, and outcomes was collected. The follow-ups were done through WeChat, telephone, or clinic visits every 3 to 6 months. Results: Among the 55 patients, 31 were males and 24 were females. The age of onset was 12 years old (range 10-18 years old). They visited clinics at Tanner stages 2 to 5 with typical secondary sexual characteristics. Nine cases (16%) were trigged by infection and 5 cases (9%) were triggered by insidious exercises. The period from onset to diagnosis was between 2 months and 6 years. Forty-five cases (82%) had neuropsychiatric symptoms as the main symptoms, followed by cardiovascular symptoms in 12 cases (22%), kidney damage in 7 cases (13%), and eye disease in 12 cases (22%). Fifty-four cases (98%) had the biochemical characteristics of methylmalonic acidemia combined with homocysteinemia, and 1 case (2%) had the isolated methylmalonic acidemia. Genetic diagnosis was obtained in 54 cases, with 20 variants identified in MMACHC gene and 2 in MMUT gene. In 53 children with MMACHC gene mutation,1 case had dual gene variants of PRDX1 and MMACHC, with 105 alleles. The top 5 frequent variants in MMACHC were c.482G>A in 39 alleles (37%), c.609G>A in 17 alleles (16%), c.658_660delAAG in 11 alleles (10%), c.80A>G in 10 alleles (10%), c.567dupT and c.394C>T both are 4 alleles (4%). All patients recovered using cobalamin, L-carnitine, betaine, and symptomatic therapy, and 54 patients (98%) returned to school or work. Conclusions: Patients with adolescence-onset MMA may triggered by fatigue or infection. The diagnosis is often delayed due to non-specific symptoms. Metabolic and genetic tests are crucial for a definite diagnosis. Treatment with cobalamin, L-carnitine, and betaine can effectively reverse the prognosis of MMA in adolescence-onset patients.

01 Jun 2024·Molecular Genetics and Metabolism Reports

Preventing hyperhomocysteinemia using vitamin B6 supplementation in Givosiran-treated acute intermittent porphyria: Highlights from a case report and brief literature review

Author: Duffau, Pierre ; Mercié, Patrick ; Richard, Emmanuel ; Ribeiro, Emmanuel ; Redonnet-Vernhet, Isabelle ; Blouin, Jean-Marc ; Gouya, Laurent ; Mesli, Samir ; Guibet, Claire ; Gensous, Noémie ; Lebreton, Louis ; Bronnimann, Didier

Acute hepatic porphyrias are inherited metabolic disorders of heme biosynthesis characterized by the accumulation of toxic intermediate metabolites responsible for disabling acute neurovisceral attacks. Givosiran is a newly approved siRNA-based treatment of acute hepatic porphyria targeting the first and rate-limiting δ-aminolevulinic acid synthase 1 (ALAS1) enzyme of heme biosynthetic pathway. We described a 72-year old patient who presented with severe inaugural neurological form of acute intermittent porphyria evolving for several years which made her eligible for givosiran administration. On initiation of treatment, the patient developed a major hyperhomocysteinemia (>400 μmol/L) which necessitated to discontinue the siRNA-based therapy. A thorough metabolic analysis in the patient suggests that hyperhomocysteinemia could be attributed to a functional deficiency of cystathionine β-synthase (CBS) enzyme induced by givosiran. Long-term treatment with vitamin B₆, a cofactor of CBS, allowed to normalize homocysteinemia while givosiran treatment was maintained. We review the recently published cases of hyperhomocysteinemia in acute hepatic porphyria and its exacerbation under givosiran therapy. We also discuss the benefits of vitamin B₆ supplementation in the light of hypothetic pathophysiological mechanisms responsible for hyperhomocysteinemia in these patients. Our results confirmed the importance of monitoring homocysteine metabolism and vitamin status in patients with acute intermittent porphyria in order to improve management by appropriate vitamin supplementation during givosiran treatment.

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Homocysteinemia

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