Definitions for homocystinuria
ho·mo·cystin·uri·a

WiktionaryRate this definition:0.0 / 0 votes

1. homocystinurianoun

   An inherited metabolic disorder characterised by the presence of homocysteine in the urine

WikipediaRate this definition:0.0 / 0 votes

1. Homocystinuria

   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. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.

WikidataRate this definition:5.0 / 1 vote

1. Homocystinuria

   Classical Homocystinuria, also known as cystathionine beta synthase deficiency or CBS deficiency, is an inherited disorder of the metabolism of the amino acid methionine, often involving cystathionine beta synthase. It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Homocystinuria

   Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of CYSTATHIONINE BETA-SYNTHASE and associated with elevations of homocysteine in plasma and urine. Clinical features include a tall slender habitus, SCOLIOSIS, arachnodactyly, MUSCLE WEAKNESS, genu varus, thin blond hair, malar flush, lens dislocations, an increased incidence of MENTAL RETARDATION, and a tendency to develop fibrosis of arteries, frequently complicated by CEREBROVASCULAR ACCIDENTS and MYOCARDIAL INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, p979)

How to pronounce homocystinuria?

1. Alex

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Numerology

1. Chaldean Numerology

   The numerical value of homocystinuria in Chaldean Numerology is: 5

2. Pythagorean Numerology

   The numerical value of homocystinuria in Pythagorean Numerology is: 1

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References

1. ^ Wiktionary
   https://en.wiktionary.org/wiki/Homocystinuria
2. ^ Wikipedia
   https://en.wikipedia.org/wiki/Homocystinuria
3. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=homocystinuria