Inborn errors of metabolism

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Inborn errors of metabolism form a large class of

"one gene-one enzyme" hypothesis, based on his studies on the nature and inheritance of alkaptonuria. His seminal text, Inborn Errors of Metabolism, was published in 1923.[3]

Classification and symptoms of metabolic diseases

See also:
Metabolic disorders

Traditionally the inherited metabolic diseases were classified as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases.[4] In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. Following are some of the major classes of congenital metabolic diseases, with prominent examples of each class.[5]

Because of the enormous number of these diseases the wide range of systems affected badly, nearly every "presenting complaint" to a healthcare provider may have a congenital metabolic disease as a possible cause, especially in childhood and adolescence. The following are examples of potential manifestations affecting each of the major organ systems.

Diagnostic

Dozens of congenital metabolic diseases are now detectable by

diagnostic tests
are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis.

Gas chromatography–mass spectrometry (GCMS) machine

Common screening tests used in the last sixty years:

Specific diagnostic tests (or focused screening for a small set of disorders):

A 2015 review reported that even with all these diagnostic tests, there are cases when "biochemical testing, gene sequencing, and enzymatic testing can neither confirm nor rule out an IEM, resulting in the need to rely on the patient's clinical course".

ADHD pathophysiology and treatment. This highlights the importance of close collaboration between health services to avoid clinical overshadowing.[8]

Treatment

In the middle of the 20th century the principal treatment for some of the

amino acid disorders
was restriction of dietary protein and all other care was simply management of complications. In the past twenty years, new medications, enzyme replacement, gene therapy, and organ transplantation have become available and beneficial for many previously untreatable disorders. Some of the more common or promising therapies are listed:

Epidemiology

In a study in

single gene disorders in the population.[9] While a Mexican study established an overall incidence of 3.4: 1000 live newborns and a carrier detection of 6.8:1000 NBS.[10]

Type of inborn error Incidence
Disease involving amino acids (e.g. PKU, Tyrosinemia), organic acids,
primary lactic acidosis, galactosemia, or a urea cycle disease 		24 per 100 000 births[9] 1 in 4,200[9]
Lysosomal storage disease 8 per 100 000 births[9] 1 in 12,500[9]
Peroxisomal disorder ~3 to 4 per 100 000 of births[9] ~1 in 30,000[9]
Respiratory chain-based mitochondrial disease ~3 per 100 000 births[9] 1 in 33,000[9]
Glycogen storage disease 2.3 per 100 000 births[9] 1 in 43,000[9]

References

  1. ^ MedlinePlus Encyclopedia: Inborn errors of metabolism
  2. ^ "Inherited metabolic disorders - Symptoms and causes". Mayo Clinic.
  3. OCLC 1159473729.[page needed][non-primary source needed
    ]
  4. OCLC 884592549
    .
  5. ISBN 978-88-470-1119-9
    .
  6. PMID 11261724
    .
  7. PMID 26075348
    .
  8. S2CID 243983688
    .
  9. ^
    S2CID 30266513
    .
  10. PMID 28302345
    .

Further reading

External links
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