Template:Metabolic pathology

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Inborn error of amino acid metabolism (E70-72, 270)

Lysine/straight chain	Glutaric acidemia type 1 · type 2 · Hyperlysinemia · Pipecolic acidemia · Saccharopinuria

Leucine	Maple syrup urine disease · Isovaleric acidemia · 3-Methylcrotonyl-CoA carboxylase deficiency · 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Tryptophan	Hypertryptophanemia

G→pyruvate→citrate

Glycine

Sarcosinemia · D-Glyceric acidemia · Glutathione synthetase deficiency

Glycine→Creatine: GAMT deficiency

G→glutamate→
α-ketoglutarate

Histidine	Carnosinemia · Histidinemia · Urocanic aciduria

Proline	Hyperprolinemia · Prolidase deficiency

Glutamate/glutamine	SSADHD

G→propionyl-CoA→
succinyl-CoA

Valine	Maple syrup urine disease · Hypervalinemia · Isobutyryl-CoA dehydrogenase deficiency

Isoleucine	Maple syrup urine disease · Beta-ketothiolase deficiency · 2-Methylbutyryl-CoA dehydrogenase deficiency

Methionine	Hypermethioninemia · Homocystinuria · Cystathioninuria

General BC/OA	Propionic acidemia · Methylmalonic acidemia · Methylmalonyl-CoA mutase deficiency

G→fumarate

G→oxaloacetate


Urea cycle/Hyperammonemia (arginine, aspartate)	N-Acetylglutamate synthase deficiency · Carbamoyl phosphate synthetase I deficiency · Ornithine transcarbamylase deficiency/translocase deficiency · Citrullinemia · Argininosuccinic aciduria · Argininemia

Transport/
IE of RTT

Solute carrier family: Cystinuria · Hartnup disease · Lysinuric protein intolerance · Iminoglycinuria

other/general/unknown: Oculocerebrorenal syndrome · Fanconi syndrome · Cystinosis

Other

Trimethylaminuria · 2-Hydroxyglutaric aciduria · Fumarase deficiency

see also Urea cycle enzymes, intermediates

Inborn error of carbohydrate metabolism: monosaccharide metabolism disorders (including glycogen storage diseases) (E73-74, 271)

Sucrose, transport
(extracellular)

Disaccharide catabolism	Lactose intolerance · Sucrose intolerance

Monosaccharide transport	Glucose-galactose malabsorption · Inborn errors of renal tubular transport (Renal glycosuria) · Fructose malabsorption

Hexose → glucose

Monosaccharide catabolism

fructose: Essential fructosuria · Fructose intolerance

galactose/galactosemia : GALK deficiency · GALT deficiency/GALE deficiency

Glucose ⇄ glycogen

Glycogenesis	GSD type 0, glycogen synthase · GSD type IV, Andersen's, branching

Glycogenolysis	extralysosomal: GSD type V, McArdle, muscle glycogen phosphorylase/GSD type VI, Hers', liver glycogen phosphorylase · GSD type III, Cori's, debranching lysosomal/LSD: GSD type II, Pompe's, glucosidase

Glucose ⇄ CAC

Glycolysis	MODY 2 · GSD type VII, Tarui's, phosphofructokinase · Triosephosphate isomerase deficiency · Pyruvate kinase deficiency

Pyruvate catabolism	PDHA · Fumarase deficiency

Gluconeogenesis	PCD · Fructose bisphosphatase deficiency · GSD type I, von Gierke, glucose 6-phosphatase

Pentose phosphate pathway

Glucose-6-phosphate dehydrogenase deficiency · Pentosuria

Other

Hyperoxaluria (Primary hyperoxaluria)

see also glycogenesis and glycogenolysis enzymes, intermediates; see also pentose phosphate pathway enzymes, intermediates

(LSD) Inborn error of lipid metabolism: lipid storage disorders (E75, 272.7-272.8)

Sphingolipidoses
(to ceramide)

NCL

Infantile · Jansky-Bielschowsky disease · Batten disease

Other

Cerebrotendineous xanthomatosis · Cholesteryl ester storage disease (Wolman disease) · Sea-blue histiocyte syndrome

see also enzymes, sphingolipids

v • d • e (LSD) Inborn error of carbohydrate metabolism: mucopolysaccharidosis (E76, 277.5)

Anabolism	Pentosuria

Catabolism	1:Hurler/Scheie · 2:Hunter · 3:Sanfilippo ABCD · 4:Morquio · 6:Maroteaux-Lamy · 7:Sly

see also enzymes, glycosaminoglycans

Inborn error of lipid metabolism: dyslipidemia (E78, 272.0-272.6)

Hyperlipidemia

Hypercholesterolemia/Hypertriglyceridemia (Type I, Familial hypercholesterolemia/Type IIa, Combined hyperlipidemia/Type IIb) · Xanthoma

Hypolipoproteinemia

Hypoalphalipoproteinemia/HDL	Lecithin cholesterol acyltransferase deficiency · Tangier disease

Hypobetalipoproteinemia/LDL	Abetalipoproteinemia · Apolipoprotein B deficiency

Lipodystrophy

Barraquer-Simons syndrome

Other

Lipomatosis · Adiposis dolorosa · Lipoid proteinosis

see also lipoprotein metabolism

Inborn error of purine-pyrimidine metabolism (E79, 277.2)

Purine metabolism

Anabolism	Adenylosuccinate lyase deficiency - Myoadenylate deaminase deficiency

Nucleotide salvage	Lesch-Nyhan syndrome/Hyperuricemia - Adenine phosphoribosyltransferase deficiency

Catabolism	Adenosine deaminase deficiency - Purine nucleoside phosphorylase deficiency - Xanthinuria - Gout

Pyrimidine metabolism

Anabolism	Orotic aciduria

Catabolism	Dihydropyrimidine dehydrogenase deficiency

see also nucleotide metabolism, intermediates

Inborn error of metal metabolism (E83, 275)

Transition metal

Cu	high: Copper toxicity · Wilson's disease deficiency: Copper deficiency · Menkes disease

Fe	high: Primary iron overload disorder: Hemochromatosis/HFE1 · Juvenile/HFE2 · HFE3 · African iron overload/HFE4 · Aceruloplasminemia · Atransferrinemia · Hemosiderosis deficiency: Iron deficiency

Zn	high: Zinc toxicity deficiency: Acrodermatitis enteropathica

Electrolyte

PO₄³⁻	high: Hyperphosphatemia deficiency: Hypophosphatemia · alkaline phosphatase (Hypophosphatasia)

Mg²⁺	high: Hypermagnesemia deficiency: Hypomagnesemia

Ca²⁺	high: Hypercalcaemia · Milk-alkali syndrome (Burnett's) · Calcinosis (Calciphylaxis, Calcinosis cutis) · Calcification (Metastatic calcification, Dystrophic calcification) deficiency: Hypocalcaemia · Osteomalacia · Pseudohypoparathyroidism (Albright's hereditary osteodystrophy) · Pseudopseudohypoparathyroidism

see also metal metabolism

Water-electrolyte imbalance and acid-base imbalance (E86-E87, 276)

Volume status

Volume contraction (Dehydration/Hypovolemia) · Hypervolemia

Electrolyte

Na⁺	Hypernatremia · Hyponatremia (Hypotonic, Isotonic)

K⁺	Hyperkalemia · Hypokalemia

Cl⁻	Hyperchloremia · Hypochloremia

Acid-base

Acidosis	Metabolic: High anion gap (Ketoacidosis/Diabetic ketoacidosis, Lactic) · Normal anion gap (Hyperchloremic, Renal tubular) Respiratory

Alkalosis	Metabolic: Contraction alkalosis Respiratory

Both	Mixed disorder of acid-base balance