Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they Have in Common?
J. inborn errors metab. screen
;
7: e20190007, 2019. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090979
ABSTRACT
Abstract Genetic homocystinurias are a group of inborn errors of metabolism that result in the massive excretion of homocysteine (Hcy) in the urine due to Hcy accumulation in the body, usually causing neurological and cardiovascular complications. The three most frequent causes are classical homocystinuria [deficiency of cystathionine beta-synthase (CBS)], methylmalonic aciduria with homocystinuria, cblC type (cblC deficiency) and severe methylenetetrahydrofolate reductase (MTHFR) deficiency. In this review, we highlight the similarities and differences among these disorders. Briefly, their joint manifestation is the accumulation of tHcy, however, the other sulfur amino acids show various and even invers profiles. Vascular disease, developmental delay and seizures are found in all homocystinurias, nevertheless, the complications of CNS differ in a wide variety of presentations and severities and are apparently less pronounced in CBS deficiency. Moreover, patients with remethylation defects typically do not present ectopia lentis and bone disturbances, tall stature and osteoporosis. Whereas hematological alterations, such as megaloblastic anemia, thrombocytopenia neutropenia and life-threatening microangiopathy, are specific findings of cblC deficiency.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Etiology study
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2019
Type:
Article
Affiliation country:
Brazil
/
Netherlands
Institution/Affiliation country:
Universidade Federal do Rio Grande do Sul/BR
/
University Medical Centre Amsterdam/NL
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