Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Störungen des Harnsäurestoffwechsels

Störungen des Harnsäurestoffwechsels können erhöhte und erniedrigte Plasma-Harnsäure-Spiegel aufweisen. Sie umfassen Störungen der Harnsäure-Produktion und -Ausscheidung.

Gliederung

Erbliche Stoffwechselerkrankungen
Acoeruloplasminämie/Hypocoeruloplasminämie
Coenzym Q10-Mangel
Erbliche Fettstoffwechselerkrankungen
Genetisch bedingte Hyperbilirubinämie
Glycolipidose
HADH-Mangel
Hypomagnesiämie
Hypomethylierungs-Syndrom
Kongenitale Glykosilierungsstörung
Lebensmittelunverträglichkeiten
Lysosomale Speicherkrankheiten
MELAS-Syndrom
Methioninadenosyltransferase-Mangel
Störungen des Cobalaminstoffwechsels
Störungen des Eisenstoffwechsels
Störungen des Glucosestoffwechsels
Störungen des Harnstoffzyklus
Störungen des Harnsäurestoffwechsels
Hyperuricämie
Hyperuricämische Nephropathie
Juvenile hyperuricämische Nephropathie Typ 1
UMOD
Juvenile hyperuricämische Nephropathie Typ 2
REN
Kelley-Seegmiller-Syndrom
HPRT1
Lesch-Nyhan-Syndrom
HPRT1
Veranlagung für Gicht 1
ABCG2
Hypouricämie
Renale Hypourikämie
SLC22A12
SLC2A9
Störungen des Phosphathaushaltes

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