What are examples of inborn errors of metabolism?

Inborn error of metabolism: A heritable disorder of biochemistry. Examples of inborn errors of metabolism include albinism, cystinuria (a cause of kidney stones), phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease.

Who first discovered inborn errors of metabolism?

The term “inborn error of metabolism” was first coined in 1908 by Sir Archibald Garrod, in reference to four disorders (alkaptonuria, pentosuria, cystinuria and albinism).

How is inborn errors of metabolism inherited?

Inborn errors of metabolism describes a class of over 1000 inherited disorders caused by mutations in genes coding for proteins that function in metabolism. Most of the disorders are inherited as autosomal recessive, whereas autosomal dominant and X-linked disorders are also present.

How many different inborn metabolic errors are there?

Inborn errors of metabolism (IEMs) are genetic disorders that disrupt biochemical processes in the body by altering enzyme activity, cellular transport, or mitochondrial bioenergetics. Over 600 IEMs have been described to date, and this number is increasing with the more widespread use of whole exome sequencing.

What is inborn error metabolism?

Inborn errors of metabolism are rare genetic (inherited) disorders in which the body cannot properly turn food into energy. The disorders are usually caused by defects in specific proteins (enzymes) that help break down (metabolize) parts of food.

What is the first inborn error of metabolism?

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….Epidemiology.

What are the consequences of inborn errors of metabolism?

Some findings in patients with IEM may include elevated acid levels in the blood, low blood sugar, high blood ammonia, abnormal liver function tests, and blood cell abnormalities. Certain patients may also have neurologic abnormalities such as seizures and developmental delays. Growth may also be affected.

Can you treat inborn errors of metabolism?

The management of inborn errors of metabolism has traditionally consisted in diet therapy and supportive therapy, but recently other treatment options have become available, including enzyme and coenzyme replacement, removal of harmful substances, cell and organ transplantation, and gene therapy.

What is inborn metabolic error?

What does the inborn error of metabolism MeAN?

…metabolic disorders, also known as inborn errors of metabolism, respond to dietary treatment. Most of these relatively rare disorders are inherited as autosomal recessive traits (i.e., both parents must be carriers) and result in a specific enzyme or cofactor that has reduced activity or is absent altogether.

Are there any inherited metabolic disorders in infants?

Specific patterns of dysmorphic features and congenital anomalies characterize yet another group of inherited metabolic disorders, such as Zellweger syndrome and the Smith–Lemli–Opitz syndrome. Each of these symptom complexes, and the appropriate evaluation of the affected infants, is discussed in more detail in this review.

How is genetic testing used to diagnose inborn errors of metabolism?

Newborn screening attempts to catch metabolic diseases before they cause severe developmental delays or impairments. Genetic testing may also be used to diagnose inborn errors of metabolism or to confirm diagnosis based on screening or other biochemical findings.

Are there any inborn errors of metabolism associated with jaundice?

For most of the inborn errors of metabolism associated with jaundice, the elevated serum bilirubin is of the direct-reacting type. This generalization does not include those inborn errors of erythrocyte metabolism, such as glucose-6-phosphate dehydrogenase deficiency or pyruvate kinase deficiency,…