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Co‐existence of lysosomal storage diseases in a consanguineous family
Author(s) -
Guy R,
Forsyth J M,
Cooper A,
Morton R E
Publication year - 2001
Publication title -
child: care, health and development
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.832
H-Index - 82
eISSN - 1365-2214
pISSN - 0305-1862
DOI - 10.1046/j.1365-2214.2001.00165.x
Subject(s) - consanguinity , cousin , fabry disease , lysosomal storage disorders , consanguineous marriage , sister , index case , brother , disease , lysosomal storage disease , pediatrics , medicine , family history , chinese family , pathology , genetics , biology , gene , archaeology , sociology , anthropology , history
Summary Lysosomal storage diseases are rare and coexistence of more than one in a family can present a diagnostic challenge as illustrated by this study. The index case born to consanguineous Asian parents presented with developmental delay. Investigations led to an incidental finding of Fabry disease. After numerous additional investigations over a year, a second diagnosis of aspartylglucosaminuria (AGU) was made. A family history of renal disease and developmental delay was disclosed. The sister and first cousin of the index case were diagnosed as homozygous for AGU, but do not have Fabry disease. The younger brother has since been diagnosed with both Fabry disease and AGU. Another cousin has learning difficulties and fits, but is heterozygous for AGU, and possibly has another uncharacterised autosomal recessive disorder. In a family with consanguinity when the clinical picture in an individual is not fully explained by the presence of one rare metabolic disease, it is essential to investigate further for the presence of others.