Mevalonic aciduria. Mevalonate kinase deficiency
Incidence
Very rare. Eleven cases reported up to 1993. Two forms: early and late (6-12 months) infantile forms. It is a branched chain organic aciduria. Disorder of cholesterol biosynthesis. No patients reported in Saudi Arabia.
Clinical Characteristics
Triangular face,down-slanted eyes, large posteriorly rotated low-set ears, cataracts, seizures. FTT, hepatosplenomegaly, thrombocytopenia, anemia, leucocytosis, severe gastroenteritis, early generalized brain atrophy. Hypotonia & high CPK in late infantil
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
Mevalonate kinase deficiency: EB-F, W, and liver. Blood cholesterol 70-80 mg%.