Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 1999 Nov;4(8):557-62.
doi: 10.1093/pch/4.8.557.

Homocystinuria: Challenges in diagnosis and management

J Garland  1 , A Prasad, C Vardy, C Prasad
Affiliations
Case Reports

Homocystinuria: Challenges in diagnosis and management

J Garland et al. Paediatr Child Health. 1999 Nov.

Abstract
in English, French

Two patients with homocystinuria are discussed. Both patients presented with behavioural abnormalities and deficits in attention - symptoms that are frequently encountered in paediatric office practice. In both cases, the diagnosis of homocystinuria was not made at initial presentation. Subtle but definite phenotypic features eventually provided the first indication of homocystinuria between the ages of five to seven years. Laboratory screening confirmed homocystine in the urine, and elevated methionine and homocysteine plasma levels in both patients. Patients with inborn errors of metabolism such as homocystinuria are treated first by family physicians and paediatricians. Without a high index of suspicion, physicians can easily overlook a diagnosis of homocystinuria. The management of patients with homocystinuria continues to pose a challenge to physicians and care givers.

Deux patients atteints d’homocystinurie sont présentés. Tous deux affichaient des anomalies de comportement et un déficit de l’attention, des symptômes souvent observés dans le cabinet des pédiatres. Dans les deux cas, le diagnostic d’homocystinurie n’a pas été posé à la première visite. Des traits phénotypiques subtils mais établis ont fini par fournir la première indication d’homocystinurie entre l’âge de cinq et sept ans. Des examens de laboratoire ont confirmé la présence d’homocystine dans l’urine, ainsi qu’une élévation du taux de méthionine et d’homocystine plasmatique chez les deux patients. Les patients atteints d’une erreur innée du métabolisme comme l’homocystinurie sont d’abord traités par des médecins de famille ou des pédiatres. Sans un indice de suspicion élevé, il est facile pour les médecins d’omettre la possibilité d’homocystinurie. Le traitement des patients atteints d’homocystinurie continue de représenter un défi pour les médecins et les soignants.

Keywords: Attention deficit hyperactivity disorder; Cystathionine beta-synthase deficiency; Developmental delay; Homocystinuria; Lens dislocation.

PubMed Disclaimer

Figures

Figure 1)
Figure 1)
The metabolism of methionine, homocysteine and cystathionine. The principal pathway for the metabolism of dietary methionine is through conversion of homocysteine to cysteine. Folate and vitamin B6 (pyridoxine) are important cofactors in the metabolism of homocysteine, while introduction of betaine leads to remethylation of homocysteine to methionine and degradation of pathways other than trans-sulfuration
Figure 2)
Figure 2)
Pedigree showing autosomal recessive inheritance of homocystinuria and inter-relationship between the two affected cases
Figure 3)
Figure 3)
Frontal views of patient in case presentation 1 showing relative nonspecific facial features and the high myopic refractive error
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Mudd S, Levy H, Skovby F. Disorders of transsulfuration. In: Scriver CR, Beaudet AL, Sly WS, Vale D, editors. The Metabolic and Molecular Bases of Inherited Disease. 7th edn. Vol. 1. New York: McGraw-Hill Inc; 1995. pp. 1279–327.
    1. Mudd SH, Skovby F, Levy HL, et al. The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am J Hum Genet. 1985;37:1–31. - PMC - PubMed
    1. De Franchis R, Sperandeo MP, Sebastio G, Andria G. Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria. Eur J Pediatr. 1998;157(Suppl 2):S67–70. - PubMed
    1. Clarke R, Daly L, Robinson K, et al. Hyperhomocysteinemia: an independent risk factor for vascular disease. N Engl J Med. 1991;324:1149–55. - PubMed
    1. Robinson K, Mayer E, Jacobsen DW. Homocysteine and coronary artery disease. Cleve Clin J Med. 1994;61:438–50. - PubMed

Publication types