Metabolic Disorders
Inborn errors of metabolism
Make energy
Citric acid cycle aka Kreb's (in matrix of mitochondria)
Excrete waste
Urea cycle converts ammonia to urea or uric acid (Rx Low protein diet, Arginine, Sodium phenylbutyrate, Sodium Benzoate, haemodialysis)
Organic acids ? where do they fit
---------------
Disorders of intermediary metabolism (toxic encephalopathy: aa/oa/ucd/carb intolerance, energy deficit: carb/fatty acid/mito)
Disorders of biosynthesis and breakdown of complex molecules
Disorders of neurotransmitter metabolism
Make energy
Citric acid cycle aka Kreb's (in matrix of mitochondria)
- Acetyl CoA and oxygen to CO2 and NADH
- Produces ATP
Excrete waste
Urea cycle converts ammonia to urea or uric acid (Rx Low protein diet, Arginine, Sodium phenylbutyrate, Sodium Benzoate, haemodialysis)
- citrulline
- orthinine
Organic acids ? where do they fit
- Isovaleric acidemia
- Glutaric aciduria type I
- 3-Hydroxy-3-methylglutaric aciduria
- Multiple carboxylase deficiency
- Methylmalonic acidemia, mutase deficiency form
- 3-Methylcrotonyl-CoA carboxylase deficiency
- Methylmalonic acidemia, cblA and cblB forms
- Propionic acidemia
- Beta-ketothiolase deficiency
- Carbamyl phosphate synthetase (CPS)
- Ornithine transcarbamylase (OTC)
- Argininosuccinate synthetase (AS)
- Argininosuccinate lyase (AL)
- Arginase
- N-Acetylglutamate synthetase
---------------
Disorders of intermediary metabolism (toxic encephalopathy: aa/oa/ucd/carb intolerance, energy deficit: carb/fatty acid/mito)
- Amino acid metabolism and transport
- Phenylketonuria
- Maple syrup urine disease
- Homocystinuria
- Citrullinemia
- Argininosuccinic acidemia
- Tyrosinemia type I
- Carbohydrate metabolism and transport
- Carbohydrate intolerance disorders
- Galactosemia
- Galactokinase deficiency
- UDP galactose epimerase deficiency
- Hereditary fructose intolerance
- Disorders of carbohydrate production or utilization
- Disorders of glycogenolysis (glycogen storage diseases, GSD)
- Liver glycogen synthase deficiency (GSD 0)
- Glucose-6-phosphatase deficiency (GSD I; von Gierke disease)
- Lysosomal acid maltase deficiency (GSD II; Pompe disease)
- Glycogen debrancher deficiency (GSD III; Cori/Forbes disease)
- Glycogen branching enzyme deficiency (GSD IV; Andersen disease)
- Muscle phosphorylase deficiency (GSD V; McArdle disease)
- Liver phosphorylase deficiency (GSD VI; Hers disease)
- Muscle phosphofructokinase deficiency (GSD VII; Tarui disease)
- Phosphoglycerate kinase and phosphoglycerate mutase deficiency
- Phosphorylase b kinase deficiency
- Disorders of gluconeogenesis
- Fructose 1,6-biphosphatase deficiency
- Pyruvate carboxylase deficiency
- Phosphoenolpyruvate carboxykinase (PEPCK) deficiency
- Pyruvate dehydrogenase deficiency
- Disorders of glycogenolysis (glycogen storage diseases, GSD)
- Carbohydrate intolerance disorders
- Fatty acid oxidation (acylcarnitine profile shows increase in specific carnitines) and ketogenesis (ketones are made from fatty acids as an alternative source of AcetylCoA for the TCA)
- Multiple acyl-CoA dehydrogenase deficiency (glutaric acidemia type II)
- Carnitine palmitoyltransferase I (CPTI) deficiency
- Carnitine-acylcarnitine translocase (CACT) deficiency
- Carnitine palmitoyltransferase II (CPTII) deficiency
- Trifunctional protein (TFP) deficiency
- Long chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
- Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency
- Medium chain acyl-CoA dehydrogenase (MCAD) deficiency
- Short chain hydroxyacyl-CoA dehydrogenase (SCHAD) deficiency
- Short chain acyl-CoA dehydrogenase (SCAD) deficiency
- Carnitine uptake defect
- Vitamin-related (cobalamin, folate)
- Peptide metabolism
- Mineral metabolism
- Hemochromatosis (Fe accumulation)
- Wilson disease (Cu accumulation)
- Menkes disease (Cu deficiency)
- Acrodermatitis enteropathica (Zn deficiency)
- Mitochondrial energy metabolism
- Pyruvate carboxylase deficiency
- Phosphoenopyruvate carboxylase deficiency
- Pyruvate dehydrogenase complex deficiency
- Kearns-Sayre syndrome
- Mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS)
- Myoclonic epilepsy, ragged red fiber disease (MERRF)
- Freidrich ataxia
- Pearson syndrome
- Succinate dehydrogenase deficiency
- Cytochrome C oxidase (COX) deficiency
- Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE)
- Mitochondrial DNA depletion syndromes
Disorders of biosynthesis and breakdown of complex molecules
- Purine and pyrimidine metabolism
- Lesch-Nyhan disease
- Lysosomal storage
- Mucopolysaccharidoses (MPS)
- MPS I (Hurler, Hurler-Scheie, Scheie)
- MPS II (Hunter)
- MPS III (Sanfillippo)
- MPS IV (Morquio)
- MPS VI (Maroteaux-Lamy)
- MPS VII (Sly)
- MPS IX (Natowicz)
- Sphingolipidoses
- GM1 gangliosidosis
- GM2 gangliosidosis type 1 (Tay-Sachs)
- GM2 gangliosidosis type 2 (Sandhoff)
- Fabry disease
- Farber disease
- Gaucher disease
- Niemann-Pick disease
- Krabbe disease
- Metachromatic leukodystrophy
- Oligosaccharidoses (glycoproteinoses)
- Galactosialidosis
- Fucosidosis types
- Mannosidosis
- Aspartylglucosaminuria
- Mucolipidosis
- Mucolipidosis type I (Sialidosis)
- Mucolipidosis type II (I-cell)*
- Mucolipidosis type III (pseudo-Hurler)*
- Mucolopidosis type IV (Sialolipidosis)
- Mucopolysaccharidoses (MPS)
- Peroxisomes
- Disorders of peroxisome biogenesis
- Zellweger syndrome
- Neonatal adrenoleukodystrophy (NALD)
- Infantile Refsum disease
- Rhizomelic chondrodysplasia punctata type 1
- Disorders with deficiency of a single peroxisomal enzyme
- X-linked adrenoleukodystrophy, including adrenomyeloneuropathy (AMN) due to deficiency of adrenoleukodystrophy protein (ALDP)
- Refsum disease (phytanoyl CoA hydroxylase deficiency)
- Pseudo-NALD (acyl CoA oxidase deficiency)
- D-bifunctional enzyme deficiency
- Dihydroxy-acetone phosphate acyltransferase (DHAP-AT) deficiency (RCDP type 2)
- Alkyl-DHAP synthase deficiency (RCDP type 3)
- 2-methylacyl-CoA racemase deficiency
- Acatalasemia (Catalase deficiency)
- Hyperoxaluria type 1 (alanine glyoxylate aminotransferase deficiency)
- Disorders of peroxisome biogenesis
- Isoprenoid and sterol metabolism
- Bile acid and heme metabolism
- Porphyrias
- Glycosylation
- Lipoprotein metabolism
Disorders of neurotransmitter metabolism
- Glycine and serine metabolism
- Pterin and biogenic amine metabolism
- Gamma-aminobutyrate metabolism
- Other (eg, pyridoxine-dependent or folinic acid-dependent seizures, sulfite oxidase deficiency)