Topics Drugs & Supplements Genetics Medical Tests Medical Encyclopedia Español You Are Here: Home → Health Topics → Amino Acid Metabolism Disorders URL

of this page: https://medlineplus.gov/genetics/condition/aromatic-l-amino-acid-decarboxylase-deficiency/ Aromatic l-amino acid decarboxylase deficiency To

are several types of methods used to determine the individual amino acid levels in

and valine. NONESSENTIAL AMINO ACIDS Nonessential means that our bodies can produce the amino acid, even if we

is a genetic disorder that affects the metabolism of the amino acid methionine. Amino acids

the production of many other substances, including vitamins and proteins. One particular amino acid transported by B

for This Gene B0AT1 HND sodium-dependent amino acid transporter system B0 sodium-dependent neutral amino acid transporter B(0

of three nucleotides, called a codon, usually codes for one particular amino acid. (Amino acids are

in cells throughout the body, where it converts the protein building block ( amino acid ) aspartic acid to

that surrounds the brain and spinal cord (cerebrospinal fluid). Histidine is an amino acid that acts as

an enzyme that is involved in breaking down a protein building block ( amino acid ) called leucine to

is a condition characterized by the buildup of the amino acid cystine, a

from the MT-TE gene, called tRNA Glu , attaches to the amino acid glutamic acid (Glu

for making an enzyme called cystathionine beta-synthase. This enzyme helps break down the amino acid methionine. Specifically, this

enable JavaScript. Description Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in

The most common mutation substitutes the amino acid threonine for the amino acid isoleucine at position

of an enzyme that helps break down proteins that contain a particular building block (amino acid) called leucine. The

in which the body cannot process a particular protein building block ( amino acid ) called leucine. Additionally

the last two steps in the breakdown (metabolism) of the amino acid histidine, a

in which the body cannot effectively process a protein building block ( amino acid ) called isoleucine. This

enable JavaScript. Description Hypermethioninemia is an excess of a particular protein building block ( amino acid ), called methionine, in

type 1B. One of these mutations deletes a single protein building block (amino acid) at position 341

440-445. doi: 10.1002/jmd2.12399. eCollection 2023 Nov. Citation on PubMed Related Health Topics Amino Acid Metabolism Disorders Genetic

Koeller DM, Hoffmann GF, Haege G, Burgard P. Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in

microcephaly have a mutation in which the protein building block (amino acid) alanine is substituted

the prion protein. At this position, people can have either the protein building block ( amino acid ) methionine or the

page, please enable JavaScript. Description Arginase deficiency is an inherited disorder that causes the amino acid arginine (a

is to start the reaction in which the amino acid arginine, a

people of Ashkenazi Jewish descent. One of these mutations replaces the amino acid glutamic acid with

phenylalanine in the blood. Phenylalanine is a protein building block ( an amino acid ) that is obtained

hands and feet. The mutation changes a single protein building block (amino acid) in the

the aggrecan protein. Specifically, the amino acid valine is replaced by the amino acid methionine at protein

In these cases, the amino acid arginine is replaced by the amino acid proline at position

10.1007/s10545-010-9089-3. Epub 2010 May 18. Citation on PubMed Related Health Topics Amino Acid Metabolism Disorders Developmental

s10545-011-9363-z. Epub 2011 Jul 1. Citation on PubMed Enlarge image Related Health Topics Amino Acid Metabolism Disorders Genetic

The most common change replaces the amino acid lysine with the amino acid glutamic acid at

is involved in the breakdown of the protein building block ( amino acid ) lysine in

is involved in the breakdown of the protein building block (amino acid) lysine in

a chain that forms the protein. Each tRNA carries a specific amino acid to the

not get enough niacin (one of the B complex vitamins) or tryptophan (an amino acid). Causes Pellagra is

the FGFR2 protein. One mutation replaces the amino acid serine with the amino acid tryptophan at protein

doi: 10.1212/WNL.0b013e3181e7cabd. No abstract available. Citation on PubMed Enlarge image Related Health Topics Amino Acid Metabolism Disorders Developmental

10.1007/s10545-010-9169-4. Epub 2010 Jul 21. Citation on PubMed Related Health Topics Amino Acid Metabolism Disorders Genetic

mTOR protein. Specifically, the amino acid glutamic acid is replaced by the amino acid lysine at protein

that cells can use. The SBCAD enzyme helps break down a particular amino acid called isoleucine. Specifically

Na+/K+ ATPase: the amino acid threonine is replaced with the amino acid asparagine at protein position

protein. Aspartyl-tRNA synthetase plays a role in adding the amino acid aspartate at the

ymgme.2013.08.020. Epub 2013 Sep 8. Citation on PubMed Enlarge image Related Health Topics Amino Acid Metabolism Disorders Developmental

of this condition. Each of the known variants changes a single amino acid in the

the EVC protein, replacing the amino acid serine with the amino acid proline at position 307

of proteins. Specifically, it converts the amino acid homocysteine to another amino acid called methionine. After

caused by SOD1 gene mutations have a particular mutation that replaces the amino acid alanine with the

but for an enzyme known as methionine synthase. This enzyme converts the amino acid homocysteine to

SHP-2 protein: One mutation replaces the amino acid tyrosine with the amino acid cysteine at position

The most common mutation replaces the amino acid proline with the amino acid leucine at protein

the Navajo population of the southwestern United States replaces the amino acid arginine with the

The most common mutation replaces the amino acid arginine with the amino acid histidine at protein

Mutations that cause lattice corneal dystrophy type II change a single protein building block (amino acid) in the

The ADGRE2 gene mutation that causes vibratory urticaria changes a single protein building block ( amino acid ) in the

PubMed Central Chen F, Sarabipour S, Hristova K. Multiple consequences of a single amino acid pathogenic RTK mutation

mutations that cause Tietz syndrome either delete or change a single protein building block (amino acid) in an

that causes vibratory urticaria, written as Cys492Tyr or C492Y, replaces the protein building block (amino acid) cysteine with the

position 129 of PrP. At this position, people can have either the amino acid methionine (Met) or

the VHL protein, replacing the amino acid arginine with the amino acid tryptophan at position 200

of Portuguese ancestry have a particular mutation in which the amino acid tryptophan is replaced

The mutation responsible for this condition changes a single protein building block (amino acid) in the

In some cases, the amino acid alanine is replaced with the amino acid threonine at protein

transcription factor. The protein contains one area where a protein building block (amino acid) called alanine is

replacing the amino acid arginine at position 838 with one of several other amino acids. These genetic changes

changes in skin coloring (pigmentation). The known mutation replaces the amino acid tryptophan with the

The SERPINA6 gene polymorphism associated with ME/CFS replaces the protein building block (amino acid) alanine with the

melanocytes). The mutations that cause this condition affect a single protein building block (amino acid) in the

The PTPN22 gene variation associated with autoimmune disorders changes the protein building block (amino acid) arginine to

Aminoadipic semialdehyde synthase is involved in the breakdown of the amino acid lysine, a

and Alaska Native Health American Indian Health see American Indian and Alaska Native Health Amino Acid Metabolism Disorders AML

and Alaska Native Health American Indian Health see American Indian and Alaska Native Health Amino Acid Metabolism Disorders AML

To use the sharing features on this page, please enable JavaScript. Adrenoleukodystrophy see Leukodystrophies Amino Acid Metabolism Disorders Amyloidosis

induces autonomous homodimerization of the c-Mpl protein due to strong amino acid polarity. Blood. 2009

A, Ogata K, Matsumoto N. A novel missense mutation affecting the same amino acid as the

The FGFR1 gene variants that cause osteoglophonic dysplasia change a single building block ( amino acid ) in the

mutation in the KIT gene that replaces the protein building block (amino acid) aspartic acid with

for the fifth step in breaking down the protein building block (amino acid) leucine. The

a cause of cap myopathy. The variant replaces the amino acid methionine with the

the same variant in the ATP1A3 gene. This change replaces the amino acid glutamic acid with

to bind to DNA. Although the effect of the amino acid changes on transcription

spinocerebellar ataxia (IOSCA). The most common mutation replaces the protein building block (amino acid) tyrosine with the

risk of becoming addicted to tobacco. Each polymorphism changes a single amino acid in the

with DFNA13. Both of these mutations change a single protein building block (amino acid) in the

of the mutations that cause DFNA11 alter a single protein building block (amino acid) in myosin

the first step in melanin production. It converts a protein building block (amino acid) called tyrosine to

Most of the CTSA gene variants that cause galactosialidosis change one protein building block (amino acid) in cathepsin

soluble vitamins from food. Most of the mutations change one protein building block (amino acid) in the

studied of these variations, known as rs10490924, alters a single protein building block (amino acid) in the

disease. Most mutations in this gene change a single protein building block (amino acid) in regions

third step in the breakdown of a protein building block (amino acid) called valine. The

is designated as tRNA Glu . During protein assembly, this molecule attaches to the amino acid glutamic acid (Glu

to luteinizing hormone or chorionic gonadotropin. Researchers suggest that the change in amino acid sequence may lead

a chain that forms the protein. Each tRNA carries a specific amino acid to the

The most common POLG gene variant in Alpers-Huttenlocher syndrome replaces the amino acid alanine with the

gene or the whole gene, or change a single protein building block (amino acid) in the