| MEVALONIC ACIDURIA (MKD) | |
| ACIDEMIA, MEVALONIC | |
|
610377
OMIM = Online Mendelian Inheritance of Men | |
|
29 | |
| Mevalonate kinase | |
| 2.7.1.36 | |
| rare autosomal recessive mutation in the mevalonate kinase gene (MVK) | |
| Laboratory findings | Cholesterol n/d (serum) Coenzyme Q10, Ubiquinone normal/dec (plasma) Creatine kinase inc (serum) Cysteinyl leukotrienes (LTE4) inc (plasma) Hemoglobine normal/dec (blood) Immunglobulin IgD normal/inc (plasma) Mevalonate kinase dec (fibroblasts) Mevalonic acid inc (plasma) Mevalonic acid inc (urine) Mevalonolactone inc (urine) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | anemia ataxia cataract cerebellar atrophy or hypoplasia dysmorphism hepatomegaly (large liver) hypotonia optic atrophy psychomotor retardation respiratory insufficiency splenomegaly (large spleen) thrombopenia, thrombocytopenia amyloidosis arthralgia arthritis blue eyes bone age, advanced cerebral atrophy cholestasis developmental delay diarrhea dolichocephaly early death edema failure to thrive fever headache (severe, recurrent or occipital, migraine) infections (local, abscesses) infections (severe or recurrent) mental retardation microcephaly (<2 SD for age) myopathy neutropenia (decreased neutrophils) nystagmus onset, childhood onset, fetus onset, infancy onset, neonatal Organic acids, plasma Organic acids, urine pain, abdominal pigmentation, skin and sclera retinitis pigmentosa sclerae, blue or bluish seizures short stature skin rash, eczematous or seborrhoic vomiting |