Category: Metabolic

40 results
Hypercalcemia Hypercalcemia
Neonatal diabetes mellitus Neonatal diabetes mellitus
MODY diabetes MODY diabetes
HTG - Hypertriglyceridemia HTG - Hypertriglyceridemia
IGS - Imerslund–Gräsbeck syndrome IGS - Imerslund–Gräsbeck syndrome
Hyperparathyroidism Hyperparathyroidism
RTA - Renal tubular acidosis RTA - Renal tubular acidosis
Monogenic diabetes mellitus Monogenic diabetes mellitus
MPS - Mucopolysaccharidosis MPS - Mucopolysaccharidosis
Inherited Insulin resistance syndrome Inherited Insulin resistance syndrome
Gluconeogenesis disorder Gluconeogenesis disorder
Ketogenesis disorder Ketogenesis disorder
Porphyria Porphyria
Cystinuria Cystinuria
mtDNA - Mitochondrial DNA mtDNA - Mitochondrial DNA
Ketolysis disorder Ketolysis disorder
Liddle syndrome Liddle syndrome
Renal Fanconi syndrome Renal Fanconi syndrome
Hypomagnesemia Hypomagnesemia
Hyperammonemia Hyperammonemia
MOCOD - Molybdenum cofactor deficiency MOCOD - Molybdenum cofactor deficiency
RD,CRD,ARD - Refsum syndrome RD,CRD,ARD - Refsum syndrome
FH - Hypercholesterolemia FH - Hypercholesterolemia
Obesity Obesity
Congenital hyperinsulinism Congenital hyperinsulinism
MSUD - Maple syrup urine disease MSUD - Maple syrup urine disease
PBD - Peroxisome biogenesis disorders PBD - Peroxisome biogenesis disorders
Chylomicronemia Chylomicronemia
Congenital glycosylation disorder Congenital glycosylation disorder
Galactosemia Galactosemia
Kallmann syndrome Kallmann syndrome
Metabolic epilepsy Metabolic epilepsy
Lysosomal storage diseases Lysosomal storage diseases
Syndromal hypoglycemia Syndromal hypoglycemia
Mitochondriopathies (mitochondrial and nuclear genes) Mitochondriopathies (mitochondrial and nuclear genes)
Fatty acid oxidation disorders Fatty acid oxidation disorders
Hypophosphatemic rickets /Phosphate diabetes Hypophosphatemic rickets /Phosphate diabetes
Bartter/Gitelman syndrome Bartter/Gitelman syndrome
Glycogen storage disease Glycogen storage disease
Oligosaccharidosis Oligosaccharidosis