Amino Acid Transport Disorders, Inborn

Amino Acid Transport Systems

Amino Acids

Aminoisobutyric Acids

Amino Acid Transport Systems, Basic

Biological Transport

Amino Acid Transport System A

Biological Transport, Active

Amino Acid Transport System L

Carnitine

Dairy Products

Organic Cation Transport Proteins

Fatty Acids

Carnitine O-Palmitoyltransferase

gamma-Butyrobetaine Dioxygenase

Inborn errors of renal tubular transport

List of MeSH codes (C18)

List of MeSH codes (C16)

Aminoaciduria

Malcolm Davenport Milne

Cerebral creatine deficiency

Methylmalonyl-CoA mutase

Sodium phenylbutyrate

Ornithine translocase deficiency

List of ICD-9 codes 240-279: endocrine, nutritional and metabolic diseases, and immunity disorders

Iminoglycinuria

Electron-transferring-flavoprotein dehydrogenase

MTRR (gene)

Fanconi syndrome

Phenylketonuria

Otto Herbert Wolff

Heme

Systemic primary carnitine deficiency

Smith-Lemli-Opitz syndrome

Joseph D. Schulman

Biotin deficiency

GLUT1

Tricarboxylate transport protein, mitochondrial

Methylmalonic acidemia

Aceruloplasminemia

Cystinuria

Aldolase B

Urea cycle

Metabolism

Sodium nitroprusside

Homeostasis

Glycogen storage disease type I

Newborn screening

Infant formula

Succinic semialdehyde dehydrogenase deficiency

JAK-STAT signaling pathway

Hereditary haemochromatosis

Fatty acid metabolism

Lysosomal storage disease

Thiamine deficiency

Glycogen storage disease type V

Metabolism14

• monitoring of inborn errors of metabolism or inherited metabolic disorders. (cdc.gov)
• Braissant O. GAMT deficiency: 20 years of a treatable inborn error of metabolism. (medlineplus.gov)
• The laboratory provides training in the diagnosis of inborn errors of amino acid , organic acid, fatty acid, sterol, creatine, and peroxisomal metabolism using a variety of techniques including amino acid analysis by anion exchange chromatography, organic acid analysis by gas chromatography/mass spectrometry, acylcarnitine analysis by tandem mass spectrometry, and sterol analysis by ion ratio gas chromatography/mass spectrometry, as well as numerous staple isotope gas chromatography/mass spectrometry methods. (hopkinsmedicine.org)
• Gain experience in the laboratory diagnosis of inborn errors of amino acid, organic acid, and fatty acid metabolism, cholesterol biosynthesis, creatine biosynthesis and transport, and peroxisome metabolism. (hopkinsmedicine.org)
• This feature is also observed in other inborn errors of metabolism that cause secondary carnitine deficiency, such as organic acidemias caused by the formation of carnitine esters. (medscape.com)
• Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism . (chemeurope.com)
• Inborn errors of metabolism are now often referred to as congenital metabolic diseases or inherited metabolic diseases , and these terms are considered synonymous. (chemeurope.com)
• The term inborn error of metabolism was coined by a British physician, Archibald Garrod (1857-1936), in the early 20th century (1908). (chemeurope.com)
• His seminal text, Inborn Errors of Metabolism was published in 1923. (chemeurope.com)
• Traditionally the inherited metabolic diseases were categorized as disorders of carbohydrate metabolism, amino acid metabolism, organic acid metabolism, or lysosomal storage diseases . (chemeurope.com)
• In recent decades, hundreds of new inherited disorders of metabolism have been discovered and the categories have proliferated. (chemeurope.com)
• It displays an anorectic effect on nutrient metabolism by inhibiting gastric acid secretion, gastric emptying and postprandial GLUCAGON secretion. (lookformedical.com)
• In this blog post, we will focus on models of Inborn Errors of Metabolism (IEM) and describe how these genetic conditions can lead to hypersensitivity to a metabolite. (clinphen.org)
• MCAD deficiency is the most common disorder of fatty acid ß-oxidation and one of the most common inborn errors of metabolism. (nih.gov)

Phenylketonuria2

• NBS started in just a few states screening for a single disorder - phenylketonuria - and has grown to a core panel of 37 conditions. (cdc.gov)
• NBS started with the discovery that the amino acid disorder phenylketonuria (PKU) could be treated by dietary adjustment, and that early intervention was required for the best outcome. (handwiki.org)

Long-chain4

• It plays an essential role in the transfer of long-chain fatty acids into the mitochondria for beta-oxidation. (medscape.com)
• [ 1 ] Intracellular carnitine deficiency impairs the entry of long-chain fatty acids into the mitochondrial matrix. (medscape.com)
• Consequently, long-chain fatty acids are not available for beta-oxidation and energy production, and the production of ketone bodies (which are used by the brain) is also impaired. (medscape.com)
• Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. (nih.gov)

Peroxisomal1

• In plants it interacts with peroxisomal transport protein PXA1. (inra.fr)

Peptides2

• It is cleaved by AMYLOID PRECURSOR PROTEIN SECRETASES to produce peptides of varying amino acid lengths. (lookformedical.com)
• A 39-42 amino acid peptide, AMYLOID BETA-PEPTIDES is a principal component of the extracellular amyloid in SENILE PLAQUES. (lookformedical.com)

Metabolic Diseases2

• In fact, with the control of diarrhea and other infectious illnesses, parasitosis and severe malnutrition ( de Céspedes 1991 ), chronic diseases such as cardiovascular disorders, cancer, congenital malformations, metabolic diseases and psychiatric disorders ( de Céspedes et a l. 1996b ) started to emerge. (scielo.sa.cr)
• [3] The development of tandem mass spectrometry (MS/MS) screening in the early 1990s led to a large expansion of potentially detectable congenital metabolic diseases that can be identified by characteristic patterns of amino acids and acylcarnitines . (handwiki.org)

Defective3

• Disorders characterized by defective transport of amino acids across cell membranes. (bvsalud.org)
• Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES . (nih.gov)
• Systemic primary carnitine deficiency (CDSP) is a disorder of the carnitine cycle that results in defective fatty acid oxidation. (nih.gov)

Mitochondrial1

• Medium-chain acyl-coenzyme A dehydrogenase (MCAD) is one of the enzymes involved in mitochondrial fatty acid ß-oxidation. (nih.gov)

Biosynthesis1

• Comparative gene identification 58 (CGI-58)/Alpha Beta Hydrolase Domain 5 (ABHD5) NCIE2 functions as an acyltransferase for the synthesis of phosphatidic acid, the major intermediate in membrane and storage lipid biosynthesis. (inra.fr)

Acylcarnitines1

• In secondary carnitine deficiency, which is caused by other metabolic disorders (eg, fatty acid oxidation disorders, organic acidemias), carnitine depletion may be secondary to the formation of acylcarnitine adducts and the inhibition of carnitine transport in renal cells by acylcarnitines. (medscape.com)

Treatable1

• Screening programs are often run by state or national governing bodies with the goal of screening all infants born in the jurisdiction for a defined panel of treatable disorders. (handwiki.org)

Oxidative1

• Acylcarnitine profile and free fatty acid levels: Tandem mass spectrometry analyses of acylcarnitine profile and free fatty acids may be used to detect metabolic defects that cause secondary carnitine deficiency (eg, fatty acid oxidation disorders, organic acidemias) because acyl-CoA intermediates proximal to the block in fatty acid or amino acid oxidative pathway may be transesterified to carnitine. (medscape.com)

Degradation1

• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency (HMGCLD) is an autosomal recessive disorder of ketogenesis and leucine degradation due to mutations in HMGCL . (biomedcentral.com)

Synthesis2

• Beard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. (medlineplus.gov)
• EC 4.1.3.4) is required not only for the catabolism of the essential branched-chain amino acid leucine, but also for the synthesis of the ketone bodies acetoacetate and 3-hydroxy- n -butyrate [ 1 ]. (biomedcentral.com)

Secondary carnitine deficiency3

• Valproic acid may cause an acquired type of secondary carnitine deficiency by directly impairing renal tubular reabsorption of carnitine. (medscape.com)
• The absence or low amounts of ketones in the urine, combined with the episode of hypoglycemia in primary carnitine deficiency (as well as in other defects in the carnitine cycle or fatty acid oxidation), causes secondary carnitine deficiency. (medscape.com)
• In cases of fatty acid oxidation disorders that cause secondary carnitine deficiency, inappropriate dicarboxylic aciduria occurs during periods of illness. (medscape.com)

Organic acid analysis2

• Urine organic acid levels: In primary carnitine deficiency, the urine organic acid analysis usually is normal. (medscape.com)
• Due to the accumulation of characteristic leucine metabolites HMGCLD can be diagnosed via urinary organic acid analysis and usually is associated with an abnormal blood acylcarnitine profile as well. (biomedcentral.com)

Nucleic acid1

• An examination of the nucleic acid sequence alignment of 48 full-length rubella virus genomes revealed that the 5' terminus of the genome is more conserved than the commonly used detection windows for rubella virus RNA located in the E1 protein coding region, suggesting that the 5' terminus could be a target for improving detection of all rubella virus genotypes. (cdc.gov)

Plasma carnitine1

• A feature of most fatty acid oxidation disorders is that they are associated with decreased plasma carnitine concentrations. (medscape.com)

Renal1

• Renal aminoaciduria are classified by the specific amino acid or acids involved. (nih.gov)

Ketogenesis1

• Fatty acid ß-oxidation fuels hepatic ketogenesis, which provides a major source of energy once hepatic glycogen stores become depleted during prolonged fasting and periods of higher energy demands. (nih.gov)

Autosomal recessive1

• from OMIM) By examining the critical region for triglyceride storage disease with impaired long-chain fatty acid oxidation, a rare autosomal recessive form of NCIE (242100), on chromosome 3p21, Lefevre et al. (inra.fr)

Urine1

• A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE . (nih.gov)

Compounds2

• 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. (chemeurope.com)
• L-Lysine, also known as (S)-lysine or L-lysin, belongs to the class of organic compounds known as l-alpha-amino acids. (bovinedb.ca)

20191

• 2019). Two highly conserved ABHD5 amino acids (R299 and G328) enabled ABHD4 (ABHD4 N303R/S332G) to activate ATGL. (inra.fr)

Genetic1

• Ultimately, this report showcases how chemical hypersensitivity is generalizable to drug discovery tool applicable to many genetic disorders. (clinphen.org)

Mutations1

• SLC22A5 mutations can affect carnitine transport by impairing maturation of transporters to the plasma membrane. (medscape.com)

Protein1

• Once lipolysis is stimulated by catecholamines, protein kinase A (PKA)-mediated phosphorylation enables the dissociation of the CGI-58/PLIN1 complex, thereby recruiting adipose triglyceride lipase (ATGL) and hormone-sensitive lipase (HSL) to initiate fatty acid release. (inra.fr)

MCAD2

• Urinary organic acid profile usually is normal in these patients when they are well, except in cases of medium-chain 3-hydroxyacyl-CoA dehydrogenase (MCAD) deficiency. (medscape.com)
• In some disorders (eg, MCAD, LCHAD, short-chain acyl-CoA dehydrogenase [SCAD] deficiency) specific patterns can be seen. (medscape.com)

Fetus1

• These processes govern the availability of fatty acids to the developing fetus, where inadequate supply has been associated with substandard fetal growth. (inra.fr)

Clinical1

• mother and her son, who are able to skate together because of effective laboratory monitoring and clinical management of an inherited metabolic disorder. (cdc.gov)

Lipid1

• In disorders of fatty acid oxidation, excessive lipid accumulation occurs in muscle, heart, and liver, with cardiac and skeletal myopathy and hepatomegaly. (medscape.com)

Essential2

• Infants with PKU appear normal at birth, but are unable to metabolize the essential amino acid phenylalanine , resulting in irreversible intellectual disability . (handwiki.org)
• The microbiome produces short-chain fatty acids, amino acids, neurotransmitters, and vitamins-building blocks for every essential function of the body. (drbillcode.com)

Detection1

• Rare disorders with an annual detection rate of 2 to 5 per million. (medicalbiochemist.com)

Liver2

• Carnitine is a naturally occurring hydrophilic amino acid derivative, produced endogenously in the kidneys and liver and derived from meat and dairy products in the diet. (medscape.com)
• Other fatty acid oxidation disorders, such as long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency, can present with liver involvement. (medscape.com)

Sequence1

• In the case of metabolic disorders, the high degree of sequence conservation in these ancient genes often enable the human gene to rescue the function of the removed ortholog (the animal's version of the disease gene). (clinphen.org)

Levels2

• Elevated serum CK levels may be observed in primary carnitine deficiency and in fatty acid oxidation disorders. (medscape.com)
• Blood Levels of Trace Elements in Children with Attention-Deficit Hyperactivity Disorder: Results from a Case-Control Study. (blogspot.com)

Include1

• Other features of this disorder can include involuntary movements (extrapyramidal dysfunction) such as tremors or facial tics. (medlineplus.gov)

Single2

• This often renders the zebrafish's gene sufficient for modeling the patient condition as a single amino acid substitution, yet occasionally whole-gene humanization will need to be deployed. (clinphen.org)
• For iPSC, we source from a healthy patient (reference line - "wt Avatar") and make the single amino acid variation to model the patient variant condition (var-Avatar). (clinphen.org)

Rare1

• Guanidinoacetate methyltransferase deficiency is a very rare disorder. (medlineplus.gov)

Group1

• A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. (lookformedical.com)

Children1

• 2] Villagomez A. & Ramtekkar U. Iron, Magnesium, Vitamin D, and Zinc Deficiencies in Children Presenting with Symptoms of Attention-Deficit/Hyperactivity Disorder. (blogspot.com)