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Information about Metabolic Diseases

A metabolic disorder is a medical disorder which affects the production of energy within individual human (or animal) cells. Most metabolic disorders are genetic, though a few are "acquired" as a result of diet, toxins, infections, etc. Genetic metabolic disorders are also known as inborn errors of metabolism.

In general, the genetic metabolic disorders are caused by genetic defects that result in missing or improperly constructed enzymes necessary for some step in the metabolic process of the cell.

The largest classes of metabolic disorders are:
  • Disorders of carbohydrate metabolism
  • Disorders of amino acid metabolism
  • Disorders of organic acid metabolism (organic acidurias)
  • Disorders of fatty acid oxidation and mitochondrial metabolism
  • Disorders of porphyrin metabolism
  • Disorders of purine or pyrimidine metabolism
  • Disorders of steroid metabolism
  • Disorders of mitochondrial function
  • Disorders of peroxisomal function
  • Lysosomal storage disorders
(for further details, see inborn errors of metabolism)

A fourth class, the channelopathies (some of which cause periodic paralysis and/or malignant hyperthermia) could be considered to be metabolic disorders as well, though they are not always classified as such. These disorders affect the ion channels in the cell and organelle membranes, resulting in improper or inefficient transfer of ions through the membranes.

There are also a number of other metabolic disorders (such as myoadenylate deaminase deficiency) which do not cleanly fit into any of the above classifications.

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Metabolic pathology (, )
Amino acidAromatic (Phenylketonuria, Alkaptonuria, Ochronosis, Tyrosinemia, Albinism, Histidinemia) - Branched chain (Maple syrup urine disease, Propionic acidemia, Methylmalonic acidemia, Isovaleric acidemia, 3-Methylcrotonyl-CoA carboxylase deficiency) - Transport (Cystinuria, Cystinosis, Hartnup disease, Fanconi syndrome) - Sulfur (Homocystinuria, Cystathioninuria) - Urea cycle disorder (N-Acetylglutamate synthase deficiency, Carbamoyl phosphate synthetase I deficiency, Ornithine transcarbamylase deficiency, Citrullinemia, Argininosuccinic aciduria, Hyperammonemia) - Glutaric acidemia type 1 - Sarcosinemia
CarbohydrateLactose intolerance - Glycogen storage disease (type I, type II, type III, type IV, type V, type VI, type VII) - fructose metabolism (Fructose intolerance, Fructose bisphosphatase deficiency, Essential fructosuria) - galactose metabolism (Galactosemia, Galactose-1-phosphate uridylyltransferase galactosemia, Galactokinase deficiency) - other intestinal carbohydrate absorption (Glucose-galactose malabsorption, Sucrose intolerance) - pyruvate metabolism and gluconeogenesis (PCD, PDHA) - Pentosuria - Renal glycosuria
Lipid storageSphingolipidoses/Gangliosidoses: GM2 gangliosidoses (Sandhoff disease, Tay-Sachs disease) - GM1 gangliosidoses - Mucolipidosis type IV - Gaucher's disease - Niemann-Pick disease - Farber disease - Fabry's disease - Metachromatic leukodystrophy - Krabbe disease
Neuronal ceroid lipofuscinosis (Batten disease) - Cerebrotendineous xanthomatosis - Cholesteryl ester storage disease (Wolman disease)
Other lipidLipoprotein/lipidemias: Hyperlipidemia - Hypercholesterolemia - Familial hypercholesterolemia - Xanthoma - Combined hyperlipidemia - Lecithin cholesterol acyltransferase deficiency - Tangier disease - Abetalipoproteinemia
Fatty acid: Adrenoleukodystrophy - Carnitine (Primary, I, II)
MineralCu Wilson's disease/Menkes disease - Fe Haemochromatosis - Zn Acrodermatitis enteropathica - PO43− Hypophosphatemia/Hypophosphatasia - Mg2+ Hypermagnesemia/Hypomagnesemia - Ca2+ Hypercalcaemia/Hypocalcaemia/Disorders of calcium metabolism
Fluid, electrolyte
and acid-base balance		Electrolyte disturbance - Na+ Hypernatremia/Hyponatremia - Acidosis (Metabolic, Respiratory, Lactic) - Alkalosis (Metabolic, Respiratory) - Mixed disorder of acid-base balance - H2O Dehydration/Hypervolemia - K+ Hypokalemia/Hyperkalemia - Cl− Hyperchloremia/Hypochloremia
Purine and pyrimidineHyperuricemia - Lesch-Nyhan syndrome - Xanthinuria
PorphyrinAcute intermittent, Gunther's, Cutanea tarda, Erythropoietic, Hepatoerythropoietic, Hereditary copro-, Variegate
BilirubinUnconjugated (Gilbert's syndrome, Crigler-Najjar syndrome) - Conjugated (Dubin-Johnson syndrome, Rotor syndrome)
GlycosaminoglycanMucopolysaccharidosis - 1:Hurler/Hunter - 3:Sanfilippo - 4:Morquio - 6:Maroteaux-Lamy - 7:Sly
GlycoproteinMucolipidosis - I-cell disease - Pseudo-Hurler polydystrophy - Aspartylglucosaminuria - Fucosidosis - Alpha-mannosidosis - Sialidosis
OtherAlpha 1-antitrypsin deficiency - Cystic fibrosis - Amyloidosis (Familial Mediterranean fever) - Acatalasia
energy (from the Greek ενεργός, energos, "active, working")[1] is a scalar physical quantity that is a property of objects and systems of objects which is conserved by nature.
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A genetic disorder is a condition caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due to genetic abnormalities acquired in a few cells during life, the term "genetic disease" most commonly refers to diseases present in all cells of the body
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toxin (Greek: τοξικόν, toxikon, lit. (poison) for use on arrows) is a poisonous substance produced by living cells or organisms.
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An infection is the detrimental colonization of a host organism by a foreign species. In an infection, the infecting organism seeks to utilize the host's resources to multiply (usually at the expense of the host).
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MeSH D008661 Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
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Enzymes are proteins that catalyze (i.e. accelerate) chemical reactions.[1] In enzymatic reactions, the molecules at the beginning of the process are called substrates, and the enzyme converts them into different molecules, the products.
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MeSH D008661 Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrates) into others (products).
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Channelopathies are diseases caused by disturbed function of ion channel subunits or the proteins that regulate them. These diseases may be either congenital (often resulting from a mutation or mutations in the encoding genes) or acquired (often resulting from autoimmune attack on
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Periodic paralysis is a group of rare genetic diseases that lead to weakness or paralysis (rarely death) from common triggers such as cold, heat, high carbohydrate meals, not eating, stress or excitement and physical activity of any kind.
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Malignant hyperthermia
Classification & external resources

ICD-10 T 88.3
ICD-9 995.89

OMIM 145600 154275 154276 600467 601887 601888
DiseasesDB 7776

MeSH D008305 Malignant hyperthermia (MH or MHS
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Ion channels are pore-forming proteins that help to establish and control the small voltage gradient across the plasma membrane of all living cells (see cell potential) by allowing the flow of ions down their electrochemical gradient.
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In cell biology, an organelle is a specialized subunit within a cell, having a specific function, and separately enclosed within its own lipid membrane.

The name organelle
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inner membrane is the cell membrane (phospholipid bilayer) of an organelle or Gram-negative bacteria that is within an outer membrane.

In eukaryotic cells, this inner membrane is present within the nuclear envelope, mitochondria and plastids like the chloroplast.
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ion is an atom or molecule which has lost or gained one or more electrons, making it positively or negatively charged. A negatively charged ion, which has more electrons in its electron shells than it has protons in its nuclei, is known as an anion
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Myoadenylate deaminase deficiency (MADD) is a recessive genetic metabolic disorder that affects approximately 1-2% of populations of European descent (making it a not particularly "rare" rare disease). It appears to be considerably rarer in Oriental populations.
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Pathologist redirects here. For other uses of the terms pathology or pathological, see pathology (disambiguation).


Pathology is the study and diagnosis of disease through examination of organs, tissues, cells and bodily fluids.
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amino acid is a molecule that contains both amine and carboxyl functional groups. In biochemistry, this term refers to alpha-amino acids with the general formula H2NCHRCOOH, where R is an organic substituent.
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Aromatic amino acids are amino acids which include an aromatic ring.

Examples include:
  • phenylalanine, tryptophan, and tyrosine
  • thyroxine

See also

  • Aromatic L-amino acid decarboxylase

External links

  • MeSH

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Phenylketonuria
Classification & external resources

Phenylalanine
ICD-10 E 70.0
ICD-9 270.1

OMIM 261600
DiseasesDB 9987
MedlinePlus 001166
eMedicine ped/1787   derm/712
MeSH D010661 Phenylketonuria (PKU
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MeSH D000474 Alkaptonuria (black urine disease, alcaptonuria or ochronosis) is a rare inherited genetic disorder of tyrosine metabolism. This is an autosomal recessive trait that is caused by a defect in the enzyme homogentisic acid oxidase (EC 1.13.11.
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MeSH D009794 Ochronosis is a dermatological disorder that results in the adverse pigmentation of cartilage from a long term buildup of phenylalanine or tyrosine.
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MeSH D020176 Tyrosinemia (or "Tyrosinaemia") is an error of metabolism, usually inborn, in which the body can not effectively break down the amino acid tyrosine.

Tyrosinemia is inherited in an autosomal recessive pattern.
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Albinism
Classification & external resources

Albinistic boy
ICD-10 E 70.3
ICD-9 270.2

OMIM 203100 103470 , 203200 , 203280 ,
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Histidinemia is a rare autosomal recessive metabolic disorder caused by a deficiency of the enzyme histidase. Histidase is needed for the metabolism of the amino acid histidine.
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branched-chain amino acids or BCAA is sometimes used to refer to the amino acids having aliphatic side-chains that are non-linear. These are leucine, isoleucine and valine.
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Maple syrup urine disease
Classification & external resources

Leucine (pictured above), isoleucine, and valine are the branched-chain amino acids which build up in MSUD.
ICD-10 E 71.0
ICD-9 270.
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Propionic acidemia
Classification & external resources

Propionic acid
ICD-10 E 71.1
ICD-9 270.3

OMIM 606054
DiseasesDB 29673 29904

eMedicine ped/1906   Propionic acidemia
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Methylmalonic acidemia (MMA, also known as "methylmalonic aciduria") is an inborn error of intermediary metabolism that may present in the early neonatal period with progressive encephalopathy and death due to a secondary hyperammonemia.
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Isovaleric acidemia
Classification & external resources

Isovaleric acid
ICD-10 E 71.1
ICD-9 270.3

OMIM 243500
DiseasesDB 29840

Isovaleric acidemia
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