Paediatria Croatica, Vol. 58 No. 3, 2014.
Review article
https://doi.org/10.13112/PC.2014.37
Homocystinuria in adult patients
Diana Muačević Katanec
; KBC Zagreb
Ana Merkler
Ksenija Fumić
Ivo Barić
Marjan Merkler
Željko Reiner
Abstract
Classical homocystinuria is aminoacidopathy fi rst described in 1962. It results from the inability of degradation and consequential
accumulation of the amino acid homocysteine in the circulation. Increased plasma/serum and urine homocysteine levels can be
caused by diff erent inherited metabolic disorders or by some acquired conditions. Classical homocystinuria (McKusick 236200) is a
pathologic condition that arises from elevated concentrations of homocysteine in the plasma, most frequently due to cystathionine
β-synthase defi ciency (CBS; EC 4.2.1.22). If not treated in time, the disease can lead to serious central nervous system, eye, bone and
blood vessel complications, mainly thromboembolism. However, newborn screening for homocystinuria is not routinely performed
in many countries, including Croatia. In spite of various reasons that may cause delay in the diagnosis of homocystinuria, the
predominant one is that physicians often fail to connect a cluster of common symptoms with this rare disease. Patients are referred
to various specialists who focus on the treatment of diff erent clinical manifestations of homocystinuria, mostly without success.
Without treatment of the underlying disease, chronic complications of homocystinuria progress and patients are jeopardized by
sometimes even life-threatening thromboembolism. Patients with CBS defi ciency in whom typical clinical phenotype is absent,
represent a particular diagnostic problem, as homocysteine is usually only periodically increased when pyridoxine is omitted from
therapy. Within these patients recurrent episodes of thromboembolism are commonly the only clinical feature of homocystinuria.
Based on our experience and data from the literature, early recognition of severe or rapidly progressing myopia, subluxation of ocular
lenses, ‘marphanoid’ appearance and/or thromboembolism should be an indication for plasma homocysteine measurement and
family screening.
Keywords
homocystinuria; cystatione beta-synthase; delayed diagnosis; neonatal screening
Hrčak ID:
142300
URI
Publication date:
25.9.2014.
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