• Cholesterol absorption %of cholesterol intake [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Sterol and bile acid synthesis, mg/kg/d [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Mevalonate mevalonate shunt products; mg/kg/d in urine and mg/g creatinine [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Isoprenoids: dolichol and Coenzyme; Q mg/g Creatinine [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Fatty acids mg% in plasma [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Leukotrienes LTB4 nmol/mol creatinine [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Plasma cholesterol, cholestanol, desmosterol, lathosterol and sitosterol mg/dL [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Plasma 24-S OH-chol ng/mg cholesterol [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]

• Cholesterol absorption [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• sterol and bile acid synthesis [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• mevalonate and mevalonate shunt products [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• isoprenoids [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• fatty acids [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• leukotrienes [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• Also, the effects of altering dietary cholesterol on plasma 24-S OH-chol [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• plasma cholesterol and other sterol levels [ Time Frame: 2011 ] [ Designated as safety issue: No ]

• Studies of body composition/metabolism/growth (BWT, HT, head circumference) [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Development using several standard instruments e.g. Vineland Adaptive Behavior Scales, and Child Behavior Checklist [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Behavior using several standard assessments e.g. Nisonger Child Behavior Rating Form [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Feeding using a newly created instrument to measure feeding based on standard aspects of the neurodevelopment feeding evaluation [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Hearing and vision will be carried out longitudinally to document the phenotype and determine if dietary intervention is helpful [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Brain MRI/MRS [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Electroretinogram [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]
• Therapeutic biomarkers for MKD: cell surface markers on T-cells, soluble markers of oxidative stress and inflammation [ Time Frame: Dec 2011 ] [ Designated as safety issue: No ]

• Studies of body composition/metabolism/growth [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• development [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• behavior [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• feeding [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• hearing and vision will be carried out longitudinally to document the phenotype and determine if dietary intervention is helpful [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• Brain MRI/MRS [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• Electroretinogram [ Time Frame: 2011 ] [ Designated as safety issue: No ]
• Therapeutic biomarkers for MKD [ Time Frame: 2011 ] [ Designated as safety issue: No ]

Participants wanted for study of mevalonate kinase deficiency (MKD), mevalonic aciduria, or hyperimmunoglobulinemia with periodic fever syndrome (HIDS).

Patients with MKD (mevalonic aciduria or hyperimmunoglobulinemia with periodic fever syndrome (HIDS)) may be eligible for a research study conducted at Oregon Health & Science University (OHSU) in Portland, Oregon USA. The purpose of the study is to find out more about how these diseases affect body chemistry and health. The researchers also want to find out how cholesterol in the diet affect blood cholesterol and how the body handles cholesterol. This is a short-term and long-term dietary study. The long-term goal of this research is to see if controlling dietary cholesterol can decrease any of the symptoms of the diseases.

The study could involve up to 12 one-week admissions to OHSU over the course of 5 years.

Participants are admitted to the clinical research center for up to a week per visit. Additional visits at least yearly encouraged. During the week we measure such things as cholesterol absorption, sterol and bile acid synthesis, mevalonate and mevalonate shunt products, isoprenoids, fatty acids, leukotrienes, plasma cholesterol and other sterol levels. Also, the effects of altering dietary cholesterol on plasma 24-S OH-cholesterol, a measure of brain cholesterol turnover, will be evaluated. Studies of body composition/ metabolism/ growth, development, behavior, sleep, feeding, hearing and vision will be carried out to document the phenotype and determine if dietary intervention may be helpful.

The objective of the study is to characterize the metabolic and phenotypic consequences of MKD and study the effects of altering dietary cholesterol in MKD. We hypothesize that some of the phenotypic effects of MKD are due to altered cholesterol metabolism, but that the phenotype is predominantly due to derangements in isoprenoid metabolism.

• Mevalonic Aciduria
• Mevalonate Kinase Deficiency
• Immune System Diseases
• Periodic Fever Syndromes, Hereditary
• Lipid Metabolism, Inborn Errors

Inclusion Criteria:

• Must have documented mevalonate kinase deficiency, mevalonic aciduria, or HIDS
• Must be willing to participate in most research procedures

Exclusion Criteria:

• Unable or unwilling to participate in most research procedures