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Molybdenum cofactor deficiency – phenotypic variability in a family with a late-onset variant

✍ Scribed by Elaine P. Hughes; Lynnette Fairbanks; H Anne Simmonds; Richard O. Robinson

Book ID
111128840
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
563 KB
Volume
40
Category
Article
ISSN
0012-1622

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## Abstract Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel muta