Inborn error of metabolism

From WikiMD
Jump to navigation Jump to search

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). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases.

The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857–1936), in the early 20th century (1908). He is known for work that prefigured the "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.

Major categories of inherited metabolic diseases

Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases. 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. Many others do not fall into these categories. ICD-10 codes are provided where available.

Incidence

In a study in British Columbia, the overall incidence of the inborn errors of metabolism were estimated to be 70 per 100,000 live births or 1 in 1,400 births,[1] overall representing more than approximately 15% of single gene disorders in the population.[1]

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

Signs and symptoms

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

Diagnosis

Dozens of congenital metabolic diseases are now detectable by newborn screening tests, especially the expanded testing using mass spectrometry. This is an increasingly common way for the diagnosis to be made and sometimes results in earlier treatment and a better outcome. There is a revolutionary GC/MS based technology with an integrated analytics system, which has now made it possible to test a newborn for over 100 genetic metabolic disorders.

Because of the multiplicity of conditions, many different diagnostic tests are used for screening. An abnormal result is often followed by a subsequent "definitive test" to confirm the suspected diagnosis.

Common screening tests used in the last sixty years:

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

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, 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:

  • Dietary restriction
  • Dietary supplementation or replacement
  • Vitamins
  • Intermediary metabolites, compounds, or drugs that facilitate or retard specific metabolic pathways
  • Dialysis
  • Enzyme replacement E.g. Acid-alpha glucosidase for Pompe disease
  • Gene therapy
  • Bone marrow or organ transplantation
  • Treatment of symptoms and complications
  • Prenatal diagnosis and avoidance of pregnancy or abortion of an affected fetus

References

Metabolic.jpg

Featured disease

Metabolic syndrome is a cluster of the most dangerous heart attack risk factors: diabetes and prediabetes, abdominal obesity, high triglycerides, low HDL cholesterol and high blood pressure.

Affects one in three adults

Affecting about 35 percent of all adults in the United States according to the CDC, metabolic syndrome contributes to weight gain, by causing a state of internal starvation called metabolic starvation. This in turn leads to increases hunger, sugar cravings and increased portions leading to overeating and weight gain.

Cause and effect misunderstood

Since we traditionally thought that the portion control (which in turn was attributed wrongly to poor will power)is the cause of weight gain, rather than the effect of this metabolic starvation, all our traditional ideas about cause and effect of obesity were not only wrong but lead to the “blame the victim” attitude when it comes to obesity.

Secret of weight gain revealed

Secret of weight gain, and metabolic syndrome revealed - it has been recently proven that metabolic syndrome, and the weight gain itself are caused by a process called insulin resistance. Check your metabolic syndrome risk using the free Metabolic syndrome meter. Watch this amazing Ted Med video that reveals the secret of weight loss - Stop blaming the victim for obesity


External links

The National Institutes of Health offers theoffice of rare diseases, home reference, medlineplus andhealth information. The National Human Genome Research Institute hosts an information center, a section forpatients and the public and additionaleducational resources. Support groups can be found atNORD, Genetic Alliance and Orphanet. The genetic education center at the KUMC has many more useful links.

Template:Medical conditions Template:Carbohydrate metabolic pathology Template:Amino acid metabolic pathology Template:Fatty-acid metabolism disorders Template:Lipid metabolism disorders Template:Heme metabolism disorders Template:Inborn errors of purine-pyrimidine metabolism Template:Other metabolic pathology Template:Defects of steroid metabolism Template:Metabolic disorders of vitamins, coenzymes, and cofactors

WikiMD resources 360 on Inborn error of metabolism - scientific articles to social media

Articles

Policies / Guidelines Social Media
Flickr

Media

Patient Resources / Community
Reddit
Facebook posts
Tweets

Evidence Based Medicine

Healthcare Provider Resources
YouTube videos
Tumblr

Clinical Trials

News
Yelp.png
Quora.png
Pins
Instagram
Bing.png
External:W8MD Weight Loss, Sleep & MedSpa Wellness Topics A-Z Other resources
W8md-logo.jpg

A | B | C | D | E | F | G

H | I | J | K | L | M | N

O | P | Q | R | S | T | U

V | W | X | Y | Z



W8md2.jpg

World's largest food, health, weight loss, wellnesspedia and encyclopedia

If you are a medical professional or an expert in any field of medicine, please join us in building the world's largest weight loss and wellness encyclopedia created by experts in the field, not by the crowd. WikiMD is sponsored by W8MD weight loss, sleep and medical aesthetic centers


W8MD Weight Loss, Sleep & Medical Aesthetic Centers

Since its inception in 2011, W8MD’s insurance physician weight loss program has successfully helped thousands of patients succeed in not only losing weight but also keep it off with an ongoing maintenance plan.

FANTASTIC PROGRAM. TRULY A LIFE CHANGER. D.M. LOST 100 LBS^^

weight loss success stories

^^Individual results may vary.

Weight-loss.jpg

W8MD weight loss, sleep and medical spa blogs


Support our sponsors

W8MD weight loss, sleep and medspa centers sponsors WikiMD.

W8MD's Locations for losing weight, sleeping better and looking your best

Philadelphia

weight loss Philadelphia | Sleep center Philadelphia

King of Prussia

Lose weight King of Prussia | sleep doctor King of Prussia

New York

Weight loss NYC | Fast weight loss NYC | Lose weight NYC | Sleep apnea NYC

New Jersey

New Jersey Weight Loss, Sleep and Medical Spa Cherry Hill NJ

Other W8MD blogs

Lorcaserin weight loss | Qsymia weight loss | Phentermine weight loss | Weight loss blog | Free weight loss | Saxenda weight loss | Contrave weight loss

Ad. Tired of being overweight? W8MD's insurance weight loss* program can HELP | Advertise on WikiMD

Disclaimer: The entire contents of WIKIMD.ORG are for informational purposes only and do not render medical advice or professional services. If you have a medical emergency, you should CALL 911 immediately! Given the nature of the wiki, the information provided may not be accurate and or incorrect. Use the information on this wiki at your own risk! See full Disclaimer. * Individual results may vary.