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

Oculocerebrorenal Syndrome

Renal Tubular Transport, Inborn Errors

GTPase-Activating Proteins

Muscle Hypotonia

Phosphoric Monoester Hydrolases

Dent Disease

LEOPARD Syndrome

Syndrome

Stevens-Johnson Syndrome

Dictionaries, Medical

Dictionaries as Topic

Dictionaries, Chemical

Terminology as Topic

Phonetics

Dictionary

Language

Encyclopedias as Topic

Metabolism, Inborn Errors

Amino Acid Metabolism, Inborn Errors

Encyclopedias

Lipid Metabolism, Inborn Errors

Inborn Amino Acid Transport Disorders Summary Report | CureHunter

KAKEN - Research Projects | MOLECULAR GENETICS OF CHOLESTEROL TRANSPORT AND CHOLESTEROL REVERSE TRANSPORT DISORDERS (KAKENHI...

Inherited Defects of Membrane Transport | Harrisons Principles of Internal Medicine, 19e | AccessMedicine | McGraw-Hill Medical

Lysinuric Protein Intolerance disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Lysinuric Protein Intolerance disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ATP7A-Related Copper Transport Disorders | ARUP Consult

DMOZ - Health: Conditions and Diseases: Nutritional and Metabolic Disorders: Inherited: Lysinuric Protein Intolerance

Iminoglycinuria - Wikipedia

Magnesium wasting associated with epidermal-growth-factor receptor-targeting antibodies in colorectal cancer: a prospective...

60-year-old female patient with clinically swelling of | Open-i

SLCtables

os/oald/protein intolerance?? TWINS

os/oald/protein intolerance?? TWINS

Genes | Free Full-Text | A Narrowing of the Phenotypic Diversity Range after Large Rearrangements of the Karyotype in...

Formula 1 Protein Digest | NESS

Lysinuric protein intolerance - Wikipedia

Necropsy findings in lysinuric protein intolerance. | Journal of Clinical Pathology

SLC7A7 gene - Genetics Home Reference - NIH

SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance |...

Breast Milk Protein Intolerance and Maternal Dairy Consumption

UniProtKB/SwissProt variant VAR 010999

What Is Milk Protein Intolerance? | New Health Advisor

Essential Vegan Protein Powder by Valia (Protein Based Supplemental Drink) - ProHealth.com

Showing Compound D-Lysine (FDB023163) - FooDB

Multiple food protein intolerance (MFPI) - Other conditions - Understanding CMA - Nutricia Neocate

Therapeutic effectiveness of rituximab in a patient with unresponsive autoimmune pulmonary alveolar proteinosis | Thorax

Cystic Fibrosis Mutation Database: Mutation Detail

Plus it

Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple...

Pulmonary alveolar proteinosis during a 30-year observation. Diagnosis and treatment | Fijołek | Advances in Respiratory...

Protein Intolerance Follow-up: Deterrence/Prevention, Prognosis

Efficacy and Safety of Inhaled Molgramostim (rhGM-CSF) in Autoimmune Pulmonary Alveolar Proteinosis (aPAP) - Full Text View -...

Reliable Pharmacy 24: Viagra plus 400 mg in the USA!

ENTERIDITES: Small Intestinal Pathology

Identical twins reveal mechanisms behind ageing - Healthcanal.com : Healthcanal.com

Armani Arrives in Style Among the Top Five LPI Ayrshire Sires Cowsmo

Pulmonary alveolar proteinosis | definition of pulmonary alveolar proteinosis by Medical dictionary

Plus it

Sodium- and chloride-dependent creatine transporter elisa and antibody

PULMONARY ALVEOLAR PROTEINOSIS* | Annals of Internal Medicine | American College of Physicians

MedicoNotebook: Neonatal Pulmonary Alveolar Proteinosis

ICD-9-CM Diagnosis Code 516.0 : Pulmonary alveolar proteinosis

BMJ Group blogs: ADC Precis

List of MeSH codes (C18)

List of MeSH codes (C16)

Inborn errors of renal tubular transport

Aminoaciduria

Cerebral creatine deficiency

Malcolm Davenport Milne

Electron-transferring-flavoprotein dehydrogenase

Methylmalonyl-CoA mutase

Ornithine translocase deficiency

Sodium phenylbutyrate

Iminoglycinuria

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

Biotin

Phenylketonuria

MTRR (gene)

Fanconi syndrome

Systemic primary carnitine deficiency

Joseph D. Schulman

Smith-Lemli-Opitz syndrome

Otto Herbert Wolff

Vitamin B12

Methylmalonic acidemia

Heme

Tricarboxylate transport protein, mitochondrial

Biotin deficiency

B vitamins

Fatty acid metabolism

Succinic semialdehyde dehydrogenase deficiency

Succinic semialdehyde dehydrogenase deficiency

Factor X

ಟೆಂಪ್ಲೇಟು:Central nervous system navs - ವಿಕಿಪೀಡಿಯ

Sucrose

Tyrosinemia type II

Heme

உயிர்ச்சத்து சி - தமிழ் விக்கிப்பீடியா

Kidney stone disease

Histidinemia

Ocular albinism

Nucleic acid metabolism

Glycoprotein

Thiamine deficiency

3-Methylcrotonyl-CoA carboxylase deficiency

Metabolism

Newborn screening

Infant formula

Deficiency33

• Two patients with ornithine transcarbamylase deficiency, a urea cycle disorder, were transferred to our intensive care unit within 12 months. (mja.com.au)
• The UCD affecting our two patients was ornithine transcarbamylase (OTC) deficiency, the most common of the urea cycle disorders. (mja.com.au)
• Sometimes the opposite can happen and an IEM can result in the deficiency of an amino acid, for example some disorders of the urea cycle result in arginine deficiency. (allbest.ru)
• Deficiency of Cbl, whether nutritional or due to inborn errors of Cbl metabolism, inactivate MS and MCM leading to the accumulation of homocysteine (Hcy) and methylmalonic acid (MMA), respectively. (frontiersin.org)
• This review discusses the usefulness and limitations of current biomarkers of B 12 status in newborn screening, infant and adult diagnostics, the algorithms utilized to diagnose B 12 deficiency and unusual findings of vitamin B 12 status in various human disorders. (frontiersin.org)
• Extended Abstract: Deficiency of Sodium Taurocholate Cotransporting Polypeptide (SLC10A1): A New Inborn Error of Metabolism with an Attenuated Phenotype. (nih.gov)
• Review: Human guanidinoacetate n-methyl transferase (GAMT) deficiency: A treatable inborn error of metabolism. (nih.gov)
• Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism. (nih.gov)
• Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. (nih.gov)
• Normally, one of the metabolic pathways of tryptophan leads to the synthesis of nicotinic acid, or niacin, a vitamin of the B group, a deficiency of which causes pellagra . (britannica.com)
• Kinds of inborn errors of metabolism include galactosemia , glucose-6-phosphate dehydrogenase deficiency , Lesch-Nyhan syndrome , phenylketonuria, and Tay-Sachs disease . (thefreedictionary.com)
• Aminoacidopathies are a group of rare and diverse disorders, caused by the deficiency of an enzyme or transporter involved in amino acid metabolism. (biomedcentral.com)
• This so-called single amino acid (SAA) supplementation is especially important to overcome a deficiency of the amino acid that has become essential due to the enzymatic defect. (biomedcentral.com)
• We focus on objectives other than to overcome a deficiency of the amino acid that has become essential by the enzymatic defect. (biomedcentral.com)
• Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. (nature.com)
• These disorders result in the accumulation or deficiency of 1 or more amino acids in biological fluids, which leads to the clinical signs and symptoms of the particular amino acid disorder. (testcatalog.org)
• An urea cycle disorder or urea cycle defect is a genetic disorder caused by a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. (bionity.com)
• Sufferers have a niacin deficiency as well as an inborn error of amino acid metabolism. (naturalcurefor.com)
• Which disorder results from a deficiency or complete lack of Phenylalanine Hydroxylase? (studystack.com)
• Guanidinoacetic acid deficiency: a new entity in clinical medicine? (medsci.org)
• Ostojic SM, Ratgeber L, Olah A, Betlehem J, Acs P. Guanidinoacetic acid deficiency: a new entity in clinical medicine? (medsci.org)
• This minireview article summarizes the inherited and acquired disorders with apparent GAA deficiency and discusses a possible relevance of GAA shortfall in clinical medicine. (medsci.org)
• There are also a number of other metabolic disorders (such as myoadenylate deaminase deficiency ) which do not cleanly fit into any of the above classifications. (bionity.com)
• Deficiency of ETF-QO results in a disorder known as glutaric acidemia type II (also known as MADD for multiple acyl-CoA dehydrogenase deficiency), in which there is an improper buildup of fats and proteins in the body. (wikipedia.org)
• MMA, one of the most common disorders of organic acid metabolism, results from a deficiency of enzymes involved in amino acid metabolism. (eurekalert.org)
• Lastly, I have included my literature characterization of hepatocyte transplantation (HTx) for inborn errors of metabolism which suggests that we can attempt therapeutic HTx in a murine model of a new disease, transaldolase deficiency, with a goal of gaining almost complete hepatic repopulation with gene-replete (wild-type) cells. (dissertation.com)
• Inefficient transport of tryptophan leads to niacin deficiency, since approximately half of the nicotinamide adenine dinucleotide phosphate (NADPH) synthesis in humans is generated though tryptophan. (renalandurologynews.com)
• A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency. (buffalo.edu)
• These kinds of disorders can be a result of genetics, a deficiency in a certain hormone or enzyme, consuming too much of certain foods, or a number of other factors. (aarp.org)
• Guanidinoacetate methyltransferase deficiency is an inherited disorder that primarily affects the brain and muscles. (medlineplus.gov)
• Guanidinoacetate methyltransferase deficiency is a very rare disorder. (medlineplus.gov)
• Braissant O. GAMT deficiency: 20 years of a treatable inborn error of metabolism. (medlineplus.gov)
• Phenylketonuria is an inborn error of metabolism caused by a deficiency or absence of the enzyme needed to metabolize the essential amino acid phenylalanine. (brainscape.com)

Phenylketonuria8

• Phenylketonuria (PKU) is the most common disorder of amino acid metabolism. (encyclopedia.com)
• In this home work I try to explain such amino acid disorder diseases as phenylketonuria, maple syrup disease, homocystinuria, cystinuria, glycine encephalopathy. (allbest.ru)
• This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments. (springer.com)
• inborn error of metabolism a genetically determined biochemical disorder in which a specific enzyme defect produces a metabolic block that may have pathologic consequences at birth, as in phenylketonuria, or in later life. (thefreedictionary.com)
• Laboratory tests after birth often show higher than normal levels of particular metabolites in the blood and urine, such as phenylpyruvic acid and phenylalanine in phenylketonuria (PKU) and galactose in galactosemia. (thefreedictionary.com)
• Phenylketonuria and MSUD are heritable aminoacidopathies displaying aberrant cerebral transport of large neutral aminoacids. (dissertation.com)
• Indicanuria is also present in other inborn errors of metabolism like phenylketonuria. (renalandurologynews.com)
• Phenylketonuria (PKU) is a rare (on average 1 in 10.000-12.000 live births in Western Europe) inborn error of metabolism. (biomedcentral.com)

Protein25

• We are continuing studies of DNA and cell samples obtained and archived under our previous protocol to identify mutations in the OCRL1 gene responsible for Lowe syndrome and related disorders in affected males and attempt to correlate these mutations to particular biochemical or cellular phenotypes (enzyme activity, protein stability, cellular localization and trafficking). (clinicaltrials.gov)
• Mutations involve the amino acid transport protein gene SLC3A1. (fpnotebook.com)
• The process of moving proteins from one cellular compartment (including extracellular) to another by various sorting and transport mechanisms such as gated transport, protein translocation, and vesicular transport. (bioportfolio.com)
• In our body, the metabolic inborn error , Familial Amyloidosis , a familial pattern of the amyloidosis , is a dis-ease processes of an abnormal protein folding and amyloid deposits. (wellnessadvocate.com)
• Inborn errors of metabolism are rare genetic diseases that arise from enzyme or transport protein defect and result in a blockade of the metabolic pathways. (lecturio.com)
• Such treatment includes severe natural protein restriction, combined with protein substitution with all amino acids except the amino acids prior to the metabolic block and enriched with the amino acid that has become essential by the enzymatic defect. (biomedcentral.com)
• The aim of the present article is to provide a systematic review on the reasons for applications of single amino acid supplementation in aminoacidopathies treated with natural protein restriction and synthetic amino acid mixtures. (biomedcentral.com)
• To our best knowledge, we identified all aminoacidopathies treated with natural protein restriction and synthetic amino acid mixtures for which additional SAA supplementation has been reported. (biomedcentral.com)
• In EMBASE, EMTREE tools used included ('amino acid'/exp/dd_dt,dd_ad,dd_ct) AND (('disorders of amino acid and protein metabolism'/exp) OR ('inborn error of metabolism'/de). (biomedcentral.com)
• Categorization of IEM can be simply made on the basis of the affected metabolic network: fatty acids oxidation disorders, protein/amino acids metabolism disorders, disorders of carbohydrate metabolism, lysosomal storage diseases, peroxisomal disorders, and mitochondrial diseases. (intechopen.com)
• Amino acids ( Figure 1 ) play multiple important roles in our body: they are basic structural protein units and precursors of neurotransmitters, porphyrins, and nitric oxide. (intechopen.com)
• 50 lysinuric protein intolerance is a metabolic disorder caused by the body's inability to digest and use the amino acids lysine, arginine, and ornithine. (malacards.org)
• because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, individuals experience nausea and vomiting after ingesting protein. (malacards.org)
• An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Response to elevated platelet cytosolic Ca2+ . (malacards.org)
• 12 An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. (malacards.org)
• This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. (malacards.org)
• An important gene associated with Lysinuric Protein Intolerance is SLC7A7 (Solute Carrier Family 7 Member 7), and among its related pathways/superpathways are Protein digestion and absorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds . (malacards.org)
• 52 Lysinuric protein intolerance (LPI) is a genetic condition that is caused by the body's inability to digest the amino acids lysine, arginine, and ornithine. (malacards.org)
• Raptor's preclinical programs are based upon bioengineered novel drug candidates and drug-targeting platforms derived from the human receptor-associated protein (RAP) and related proteins that are designed to target cancer, neurodegenerative disorders and infectious diseases. (science20.com)
• It is a lesser-known amino acid because it is not incorporated into the structural building blocks of protein. (selfdecode.com)
• The sequence of the amino acids in a protein is defined by a gene. (loveysmarket.com)
• Inborn errors of protein metabolism - PKU, maple syrup urine disease, homocystinuria etc. (edu.au)
• SLC3A2 encodes for a transporter protein that allows the kidneys a transport of cystine and other amino acids from the urine. (animalabs.com)
• This deletion causes premature stop codon and consequently synthesis of defected protein, disabling COLA amino acids reabsorption to blood. (animalabs.com)
• A protein modification that effectively converts a source amino acid residue to L-methionine. (reactome.org)

Renal tubular transport4

• inherited abnormality of renal tubular transport of dibasic amino acids leading to massive urinary excretion of cystine, lysine, arginine, and ornithine. (fpnotebook.com)
• Inborn errors of renal tubular transport are metabolic disorders which lead to impairment in the ability of solutes, such as salts or amino acids, to be transported across the brush border of the renal tubule. (wikipedia.org)
• Scriver CR, Chesney RW, McInnes RR: Genetic aspects of renal tubular transport. (springer.com)
• Chesney RW: Defects of renal tubular transport. (springer.com)

Proteins14

• A broad category of proteins involved in the formation, transport and dissolution of TRANSPORT VESICLES. (bioportfolio.com)
• They are caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis, a process that predominantly occurs in the liver. (mja.com.au)
• Inborn errors of metabolism are inherited disorders in which the body cannot metabolize the components of food ( carbohydrates , proteins , and fats). (encyclopedia.com)
• Twenty of the 100 known amino acids are the main building blocks for human proteins. (thefreedictionary.com)
• Metabolic diseases affect the ability of the cell to perform critical biochemical reactions that involve the processing or transport of proteins (amino acids), carbohydrates (sugars and starches), or lipids (fatty acids). (coem.com)
• Amino acids are the basic structural units that comprise proteins and are found throughout the body. (testcatalog.org)
• Furthermore, amino acids derived from the dietary proteins serve as energy source since while catabolized in our body, amino acids form organic acids that can replenish Krebs cycle and ammonia that eliminates through urea cycle [ 1 ]. (intechopen.com)
• In the first of these, known as isolated methylmalonic acidemia (MMA), mutations in any one of four genes can impede enzyme activity that is necessary for the proper breakdown of amino acids, the building blocks of proteins (specifically the amino acids valine, isoleucine, methionine and threonine). (eurekalert.org)
• Proteins are organic (carbon-containing) compounds composed of amino acids. (loveysmarket.com)
• Amino acids are organic molecules that serve as the building blocks of proteins. (loveysmarket.com)
• IEM includes a large group of genetic diseases characterized by illnesses that occur when the body is unable to process fats (lipids), proteins, sugars (carbohydrates), or nucleic acids properly. (loveysmarket.com)
• The body must have amino acids and many types of proteins to perform all of its functions. (aarp.org)
• The enzymes and transport proteins involved in the urea cycle are illustrated in boxes with a red outline. (thefreedictionary.com)
• One possibility is that ammonia accumulated in hepatocytes is initially transported by regulating ammonia transport-related proteins AQP8 and RHCG in mitochondria, which impairs the structure and function of mitochondria via opening mPTP and the intrinsic apoptotic pathway, thus causing energy metabolic disorders and oxidative damage, which affect the urea cycle [41-43]. (thefreedictionary.com)

Cystine8

• An inherited disorder due to defective reabsorption of CYSTINE and other BASIC AMINO ACIDS by the PROXIMAL RENAL TUBULES. (fpnotebook.com)
• Cystinosis is an inborn metabolic error characterized by the abnormal transport of cystine, an amino acid, out of the lysosomes. (thefreedictionary.com)
• Cystinosis - This metabolic disorder is characterized by an abnormal accumulation of the amino acid cystine in the body, causing cystine to build up in the kidneys, eyes, muscles, pancreas and brain, eventually leading to tissue and organ damage. (coem.com)
• There is defective tubular reabsorption and jejunal absorption of cystine and the dibasic amino acids lysine, ornithine and arginine. (medassignments.com)
• Cystinuria is caused by the defective renal reabsorption of cystine and dibasic amino acids, and results in cystine stone formation. (cdc.gov)
• Dietary supplement, e.g. in Red Bull drink Taurine is a sulfur amino acid like methionine, cystine, cysteine and homocysteine. (selfdecode.com)
• Cystinuria is considered a heterogeneous group of disorders, individually differing among each other in its severity and age of onset and first cystine stones formation. (animalabs.com)
• It was recognized by Sir Archibald Garrod as an inherited defect of renal transport that included malabsorption of cystine and the dibasic amino acids ornithine, lysine and arginine, collectively known as COLA. (animalabs.com)

Congenital14

• Oculocerebrorenal syndrome of Lowe (OCRL) is a rare X-linked disorder characterized by congenital cataracts, mental retardation, and renal tubular dysfunction. (clinicaltrials.gov)
• fibrous dysplasia rare congenital developmental disorder beginning in childhood and characterized by replacement of solid calcified bone with fibrous tissue, often only on one side of the body and primarily in the long bones and pelvis. (britannica.com)
• Feature congenital metabolic disorders due to the inability to convert phenylalanine to tyrosine. (allbest.ru)
• Congenital (present at birth) enzyme deficiencies that affect amino acid metabolism or congenital abnormalities in the amino acid transport system of the kidneys creates a condition called aminoaciduria. (thefreedictionary.com)
• Some congenital amino acid metabolic defects cause mental retardation that can prevented with prompt treatment of the newborn. (thefreedictionary.com)
• Secondary or renal aminoaciduria occurs because of a congenital defect in the amino acid transport system in the tubules of the kidneys. (thefreedictionary.com)
• Amino acid transport defects can be congenital or acquired. (medassignments.com)
• His ultimate goal is to develop and validate a specific and quantitative proteomic assay that will simultaneously identify multiple congenital disorders using a small volume of blood dried onto filter paper as newborn screening. (seattlechildrens.org)
• Inborn errors of metabolism are a very large group of rare and congenital disorders of metabolism, where babies are born with a genetic defect involving a specific aspect of their metabolism. (annaliescorse.com)
• A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. (harvard.edu)
• Congenital or early-onset disorders of the nervous system have a profound and lifelong impact on the lives of children and their families. (b-ok.org)
• A couple expecting their first child has a positive family history for several congenital defects and disorders. (brainscape.com)
• If the child has congenital disorders, decisions can be made about fetal surgery if indicated. (brainscape.com)
• The information gives the parents time to grieve and plan for their child if congenital disorders are present. (brainscape.com)

Undiagnosed Inborn Error of M2

• Acute Presentation and Management of the Encephalopathic Child With an Undiagnosed Inborn Error of Metabolism. (nih.gov)
• It is believed that up to 20% of Sudden Infant Death Syndrome cases may be attributed to an undiagnosed inborn error of metabolism such as urea cycle disorder. (bionity.com)

Genetic26

• This study will investigate the genetic basis of oculocerebrorenal syndrome of Lowe (OCRL)-a rare X-linked disorder (carried by females and passed to males). (clinicaltrials.gov)
• Amino acids accumulate in body fluids when there are genetic defects i.e. inborn errors of metabolism (IEM), that affect their metabolism or transport. (allbest.ru)
• Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse. (medscape.com)
• This is an genetic error in metabolism of phenylalanine, an amino acid found in milk. (thefreedictionary.com)
• In our body, the metabolic dis-order , Inborn Genetic Errors of Metabolism are metabolic inborn errors in the metabolic process, resulting from inborn genetic mutation, that was either inherited or acquired in utero. (wellnessadvocate.com)
• In our body, the dis-orders of metabolism , Inborn Error Of Metabolism , possibly genetic inborn metabolic errors , are indicative to a specific set of signs, symptoms or other health indicators, associated with errors in metabolic processes resulting from inborn genetic mutations that may be inherited or acquired in utero. (wellnessadvocate.com)
• In our body, Progeroid Syndromes (Progeria) , aka Premature Aging Syndromes, are rare group of accelerated aging dis-orders , with possibly genetic inborn metabolic errors , characterized by clinical features mimicking physiological aging at an early age, and may cause real premature aging with shorten life expectancies. (wellnessadvocate.com)
• A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. (nih.gov)
• Adrenoleukodystrophy (ALD) - This is a rare but fatal genetic disorder in which patients accumulate high levels of saturated, very-long-chain fatty acids in the brain and adrenal cortex, which develop because they cannot produce an enzyme that breaks down fatty acids. (coem.com)
• Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero. (curehunter.com)
• Effect of expanded newborn screening for biochemical genetic disorders on child outcomes and parental stress. (umassmed.edu)
• MADD can be primary, caused by a genetic defect in the electron transfer flavoproteins (ETF) or in ETF dehydrogenase (ETFDH), or secondary, resulting from genetic defects of riboflavin transport (RFVT) or flavin adenine dinucleotide (FAD) synthesis (i.e. (nature.com)
• Inborn errors of metabolism (IEM) represent a group of inherited diseases in which genetic defect leads to the block on a metabolic pathway, resulting in a single enzyme dysfunction. (intechopen.com)
• All primary amino acids disorders ( Table 1 ) follow an autosomal recessive mode of inheritance which means that the mutation caused a metabolic block is present in the genetic material of both parents. (intechopen.com)
• Dr. Hahn developed and validated clinical genetic test on mitochondrial disorders by high-throughput next generation sequencing technology. (seattlechildrens.org)
• Other current projects in his lab focus on developing peptide finger printing analysis by tandem mass spectrometry for various metabolic and genetic disorders including cystinosis and primary immunodeficiencies. (seattlechildrens.org)
• Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. (seattlechildrens.org)
• Most metabolic disorders are genetic , though a few are "acquired" as a result of diet, toxins , infections , etc. (bionity.com)
• Genetic metabolic disorders are also known as inborn errors of metabolism . (bionity.com)
• In general, the genetic metabolic disorders are caused by genetic defects that result in missing or improperly constructed enzymes necessary for some step in the metabolic process of the cell. (bionity.com)
• The two IEMs studied are rare genetic disorders in which the body cannot properly turn food into energy. (eurekalert.org)
• This report will emphasize advances in genetic diagnosis while updating information regarding the appropriate evaluation for inborn errors of metabolism and the role of imaging in this context. (aappublications.org)
• Movement disorders, epilepsies and seizure disorders, metabolic diseases, auditory and visual disorders, and genetic anomalies are among the many topics covered in this text. (b-ok.org)
• Most metabolic disorders are caused by genetic mutations (changes in genes) that result in missing or dysfunctional enzymes that are needed for the cell to perform metabolic processes. (loveysmarket.com)
• There are hundreds of genetic metabolic disorders caused by mutations of single genes. (aarp.org)
• Errors in the metabolism of LIPIDS resulting from inborn genetic MUTATIONS that are heritable. (ucdenver.edu)

ORNITHINE2

• Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) - HHH is a rare disorder in which patients suffer from poor coordination and learning disabilities due to a buildup of an amino acid called ornithine that prevents the removal of nitrogen waste from the body. (coem.com)
• Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is an autosomal recessive disorder caused by mutations in ORNT1 gene that encodes a mitochondrial ornithine transporter. (biomedsearch.com)

Phenylalanine4

• In this disorder the body cannot use the amino acid phenylalanine normally, and excess amounts build up in the blood. (encyclopedia.com)
• The raised phenylalanine in the blood results in increased phenylpyruvic acid which is excreted in the urine in PKU, this is useful in diagnosis. (allbest.ru)
• This work presents evidence that non-physiological amino acids (NPAAs) have pharmacodynamic efficacy in selective exclusion of phenylalanine from the brain of phenylketonuric mice. (dissertation.com)
• My data indicates that MAIB is the most selective phenylalanine transport inhibitor identified thus far. (dissertation.com)

Metabolic disorder13

• An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. (fpnotebook.com)
• Inborn errors of metabolism often require diet changes, with the type and extent of the changes dependant on the specific metabolic disorder. (encyclopedia.com)
• Metabolic disorder is quite common. (coem.com)
• Approximately 32% of the population in the U.S. has metabolic disorder. (coem.com)
• Within the US, Mexican Americans have the highest prevalence of metabolic disorder. (coem.com)
• The prevalence of metabolic disorder increases with age, and about 40% of people over 60 are affected. (coem.com)
• Alkaptonuria - Also called onchorosis, this is a rare metabolic disorder characterized by arthritis in adulthood and dark brown or black urine, which occurs when a patient cannot break down tyrosine, a type of amino acid, due to a defect in an enzyme that causes something called homogenistic acid to be released in the urine. (coem.com)
• Inborn errors of urea synthesis - This metabolic disorder occurs when a series of enzyme reactions that remove nitrogen waste from the blood, called the urea cycle, is disrupted, leading to increased levels of ammonia in the blood and a condition called hyperammonemia, which leads to mental retardation, coma and death. (coem.com)
• Hartnup disease , inborn metabolic disorder involving the amino acid tryptophan . (britannica.com)
• A metabolic disorder is a medical disorder which affects the production of energy within individual animal cells . (bionity.com)
• What is a metabolic disorder? (aarp.org)
• A metabolic disorder occurs when the metabolism process fails and causes the body to have either too much or too little of the essential substances needed to stay healthy. (aarp.org)
• You can develop a metabolic disorder if certain organs - for instance, the pancreas or the liver - stop functioning properly. (aarp.org)

Peroxisomal disorders1

• Selected diseases are organized by the defective molecule or mechanism and categorized as small molecule disorders (involving amino and organic acids, fatty acids, neurotransmitters, urea cycle, vitamers and cofactors, and mitochondria) and large molecule disorders (including lysosomal storage disorders, peroxisomal disorders, glycosylation disorders, and leukodystrophies). (hindawi.com)

Autosomal recessive disorder8

• Hartnup's disease is an autosomal recessive disorder due to defective transport of Neutral aminoacids( monoamino monocarboxylic ) in the small intestine and kidneys. (ispub.com)
• Hartnup's disease is an autosomal recessive disorder due to defective transport of Neutral aminoacids( monoamino monocarboxylic ) in the small intestine and kidneys.Patients usually present with skin lesions, cerebellar ataxia and gross amino aciduria.Heterozygotes are normal. (ispub.com)
• SLOS is an autosomal recessive disorder caused by a metabolic error in the cholesterol pathway. (thefreedictionary.com)
• It is transmitted as an autosomal recessive disorder. (allbest.ru)
• Hartnup disease, also known as monkey disease or Hartnup's disorder, is an autosomal recessive disorder wherein the transport of neutral amino acids to the kidneys and small intestines is defective. (naturalcurefor.com)
• Genetically, it is an autosomal recessive disorder, making its occurrence fairly rare. (wikipedia.org)
• Hartnup disease is an autosomal recessive disorder of amino acid transport manifested with childhood onset of intermittent attacks (usually in the spring/early summer) of photosensitive dermatitis and neurologic symptoms: ataxia, spasticity, photophobia and personality and mood changes. (renalandurologynews.com)
• This is a heterogenic autosomal recessive disorder caused by mutations in SLC6A19 gene that encodes the B 0 AT1 neutral amino acid transporter. (renalandurologynews.com)

Carbohydrate Metabolism1

• Galactosemia is an autosomal recessive inborn error of carbohydrate metabolism that results in the inability of the body to metabolize galactose into glucose. (lecturio.com)

Defect13

• Any defect in the bottom two pathways can lead to problems related to glycogen storage, amino acid metabolism, and fatty acid metabolism. (lecturio.com)
• A number of clinical syndromes have been described that have as their basic foundation a defect in some transport function of the renal tubule (Table 1), and several of them are inherited. (springer.com)
• For some aminoacidopathies, supplementation of one or two amino acids, that have not become essential by the enzymatic defect, has been suggested. (biomedcentral.com)
• As a result of mutation, the inherited defect is reflected downstream as a lack or a partial biological activity of enzymes involved in amino acids metabolism. (intechopen.com)
• The defect of the amino acid carrier for transport in the kidney. (studystack.com)
• A defect in the transport of neutral amino acids results in what disease? (studystack.com)
• The final chapters of this work contain a review of the treatment prospects for SSADH disorder (a defect in GABA metabolism), and our collaborative work with the University of California focused on hyperphysiological GABA's on mTOR-driven selective autophagy. (dissertation.com)
• Table 1 lists the protean disorders along with the enzyme defect and metabolites detected on diagnostic studies. (hindawi.com)
• Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism causing methylmalonic aciduria and homocystinuria. (tripdatabase.com)
• This is a defect in the transport of glucose and galactose across the stomach lining which leads to severe diarrhea and dehydration. (aarp.org)
• He had been a full-term infant with no known problems, but his parents had been called on day 3 of life for a possible fatty acid oxidation defect on his neonatal screening test. (pediatriceducation.org)
• Odaib AA, Shneider BL, Bennett MJ, Pober BR, Reyes-Mugica M, Friedman AL, Suchy FJ, Rinaldo P. A defect in the transport of long-chain fatty acids associated with acute liver failure. (ucdenver.edu)
• Which is a birth defect or disorder that occurs as a new case in a family and is not inherited? (brainscape.com)

Cystinuria2

• Cystinuria Labrador Retriever type (L-CYS) is an inherited renal disorder affecting the Labrador retriever breed. (animalabs.com)
• Cystinuria was one of the first identified inborn defects of metabolism. (animalabs.com)

Glycine2

• The three amino acids comprising glutathione are glutamate, cysteine, and glycine. (asnjournals.org)
• Guanidinoacetic acid (GAA, also known as glycocyamine or betacyamine) is a naturally-occurring derivative of glycine and a direct metabolic precursor of creatine, a key player in high-phosphate cellular bioenergetics. (medsci.org)

Enzyme7

• The particular enzyme absence or inactivity for each inborn error of metabolism dictates which components are restricted and which are supplemented. (encyclopedia.com)
• The phenylpyruvic acid has also been shown to inhibit the enzyme pyruvate decarboxylase in brain. (allbest.ru)
• The diagnosis is based on plasmatic and urinary amino and organic acid determinations as well as on the measurement of enzyme activity in fibroblastic cultures (2) . (ajnr.org)
• The disorder has been attributed to glutathione depletion and activation of a key enzyme in the γ -glutamyl cycle. (asnjournals.org)
• Children with mild or moderate urea cycle enzyme deficiencies may not show symptoms until early childhood, or may be diagnosed subsequent to identification of the disorder in a more severely affected relative or through newborn screening. (bionity.com)
• Which enzyme is responsible for the conversion of HGA to Maleylacetoacetic Acid? (studystack.com)
• Examples of specific disorders are discussed, with full listings of the multiple enzyme defects and diseases in particular categories presented in tables. (hindawi.com)

Isoleucine2

• Maple syrup urine disease (MSUD) is a disorder in which the body is unable to use the amino acids isoleucine, leucine, and valine in a normal way. (encyclopedia.com)
• If the decarboxylation reaction that metabolizes Leucine, Isoleucine, and Valine cannot occur, what disorder occurs? (studystack.com)

ARGININE1

• Besides serving as a direct precursor of creatine, GAA appears to have no other major physiological roles [ 8 ], although exogenous GAA may stimulate hormonal release and neuromodulation, alter metabolic utilization of amino acids ( e.g. , arginine, creatine), and act as an oxidant-antioxidant tuner [ 9 ]. (medsci.org)

Ammonia6

• Less common but important causes of elevated blood ammonia levels are the inherited urea cycle disorders (UCDs). (mja.com.au)
• The urea cycle is the terminal pathway for the disposal of ammonia formed during amino acid catabolism. (mja.com.au)
• Each amino acid is further broken down into ammonia, carbon dioxide, and water. (allbest.ru)
• In urea cycle disorders, the nitrogen accumulates in the form of ammonia , a highly toxic substance, and is not removed from the body. (bionity.com)
• A lack of certain amino acids can cause elevated levels of ammonia in the blood. (malacards.org)
• By mid-2017, Synlogic plans to initiate a Phase 1 healthy volunteers study for its lead candidate, SYNB1020, which is for the potential treatment of Urea Cycle Disorders and hepatic encephalopathy, both diseases where patients experience elevated ammonia levels. (thefreedictionary.com)

Synthesis2

• Amino acid metabolism: these metabolic conditions involve either the synthesis of vital amino acids, or impairment of amino acid degradation. (annaliescorse.com)
• Béard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. (medlineplus.gov)

Defects8

• Therefore it is needless to say that defects in endocrine or metabolic function underlie so many common human diseases, including cancer, cardiovascular disease and neurodegenerative disorders. (heighpubs.org)
• The basic pathophysiologic mechanisms underlying these transport defects are described in detail elsewhere (1-4). (springer.com)
• These disorders can be subdivided in organic acidurias, urea cycle defects, transport defects of urea cycle intermediates, and remaining aminoacidopathies. (biomedcentral.com)
• 3. El-Hattab AW: Serine biosynthesis and transport defects. (testcatalog.org)
• Amino acids disorders (also called aminoacidopathies) are a group of inborn errors of metabolism diseases, caused by the inherited defects in pathways involved in amino acids metabolism. (intechopen.com)
• Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. (harvard.edu)
• Epileptic encephalopathy can be induced by inborn metabolic defects that may be rare individually but in aggregate represent a substantial clinical portion of child neurology. (hindawi.com)
• The finding of elevated methylmalonic acid can be caused by a number of distinct disorders including defects in the vitamin B12-related enzymes cobalamin A, B, C, or D and methylmalonyl CoA mutase (MUT). (hindawi.com)

LYSINE1

• Dr. Koeller has a diverse research background that includes basic studies of yeast mitochondrial iron metabolism, mammalian cellular iron metabolism, and the development and characterization of a mouse model of Glutaric Acidemia Type 1 (GA-I), an inherited disorder of lysine metabolism. (ohsu.edu)

Diseases2

• Metabolic disorders are any of the diseases or disorders that disrupt normal metabolism - the process of converting food to energy on a cellular level. (coem.com)
• Diseases of the Nervous System in Childhood provides up-to-date information on the full range of these neurological disorders, from fetal and neonatal neurology to adolescence. (b-ok.org)

Clinical14

• Inborn errors of amino acid metabolism are associated with clinical disease in most cases. (allbest.ru)
• Clinical endocrinology may treat any types of disorders of metabolism and bridge the negative consequences on things like bone strength and stability due to loss of hormones as a normal effect of aging. (heighpubs.org)
• An alternative strategy to detect amino acid deficiencies is the indicator amino acid oxidation method [ 8 ], but this method should be used for research purposes rather than for clinical practice. (biomedcentral.com)
• The clinical presentation is dependent upon the specific amino acid disorder. (testcatalog.org)
• Amino acid disorders are presented with variable and often nonspecific clinical symptoms. (intechopen.com)
• In the MMA study, led by Irini Manoli, M.D., Ph.D., a clinical and biochemical geneticist in NHGRI's Organic Acid Research Section, 61 patients enrolled from metabolic treatment centers across the United States and abroad were evaluated at the NIH Clinical Center between 2004 and 2014. (eurekalert.org)
• This clinical report will not address the importance of developmental screening in the medical home, nor will it address the diagnostic evaluation of the child with an autism spectrum disorder who happens to have ID as a co-occurring disability. (aappublications.org)
• This paper provides an overview of inborn metabolic errors associated with persistent brain disturbances due to highly active clinical or electrographic ictal activity. (hindawi.com)
• Details including key clinical features, salient electrophysiological and neuroradiological findings, biochemical findings, and treatment options are summarized for prominent disorders in each category. (hindawi.com)
• Inherited metabolic epilepsies are disorders that, while individually rare, are in aggregate a substantial clinical portion of child neurology, as well as a complex field of knowledge for physicians, investigators, and students to tackle. (hindawi.com)
• A subset of these disorders can lead to the development of epileptic encephalopathy, that is, a brain disturbance due to highly active clinical or electrographic ictal activity. (hindawi.com)
• This paper provides an overview of inborn metabolic errors associated with epileptic encephalopathy, summarizing key clinical features and underlying biochemistry, salient electrophysiological and neuroradiological findings, and primary treatment options where appropriate. (hindawi.com)
• It also lowers glutamic acid in the brain, and preliminary clinical trials suggest taurine may be useful in some forms of epilepsy. (selfdecode.com)
• Clinical manifestations and growth of patients with urea cycle disorders in Japan. (thefreedictionary.com)

Glucose2

• Fatty acids are important energy sources for the heart (50-70%) but also skeletal muscle where resting muscle uses both glucose and fatty acids. (pediatriceducation.org)
• Individuals with this disorder can metabolize glucose. (brainscape.com)

Metabolites3

• Excessive amounts of these amino acids and their metabolites will build up in the blood and spill into the urine and perspiration, giving them the odor of maple syrup (which is how this disorder got its name). (encyclopedia.com)
• Therefore, amino acids disorders are biochemically characterized by abnormal levels of single or several amino acids and their downstream plasma and/or urine metabolites ( Tables 2 - 6 ). (intechopen.com)
• Phenylpyruvic acid and other metabolites. (studystack.com)

Defective4

• Disorders characterized by defective transport of amino acids across cell membranes. (curehunter.com)
• In Hartnup disease , it is believed that the transport system in the kidney tubule that normally reabsorbs tryptophan into the body circulation is defective. (britannica.com)
• In addition to defective kidney transport, there also seems to be a delayed and incomplete absorption of dietary tryptophan through the intestinal tract. (britannica.com)
• There is defective tubular reabsorption and jejunal absorption of most neutral amino acids but not their peptides. (medassignments.com)

Oxidation4

• ETQ-QO links the oxidation of fatty acids and some amino acids to oxidative phosphorylation in the mitochondria. (wikipedia.org)
• What Are Common Fatty Acid Oxidation Metabolic Disorders? (pediatriceducation.org)
• Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. (ucdenver.edu)
• Short description: Disorders acid oxidation. (icd9data.com)

Tandem mass spectro5

• Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges. (nih.gov)
• Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8 year journey from pilot to current program. (nih.gov)
• Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India. (umassmed.edu)
• The introduction of tandem mass spectrometry (MS/MS) in the 1990s by Millington and coworkers for population-based newborn screening has helped healthcare providers detect an increased number of metabolic disorders. (loveysmarket.com)
• With the increase and expansion of neonatal screening programs, especially the use of tandem mass spectrometry, in the US, most infants are screened at birth for fatty acid metabolism problems and therefore can be treated very early in life. (pediatriceducation.org)

Urine7

• This produces increased amino acids in the urine. (thefreedictionary.com)
• Urine tests are also used to monitor specific amino acid disorders. (thefreedictionary.com)
• Young children with acidosis (accumulation of acid in the body), severe vomiting and diarrhea, or urine with an abnormal color or odor, are also screened with a urine test for specific amino acid levels. (thefreedictionary.com)
• The presence of an unusual odor of sweat or urine may indicate an inborn error of metabolism. (reliasmedia.com)
• The level of amino acids within the plasma are above the renal threshold and therefore spill into the urine. (studystack.com)
• In the normally functioning kidney, amino acids and some other substances are filtered out of the blood, and then reclaimed from the urine. (animalabs.com)
• Malabsorption of COLA amino acids in the proximal renal tubules causes their high concentrations in the urine of the affected individual. (animalabs.com)

Enzymes2

• These disorders may be caused by the altered activity of essential enzymes , deficiencies of the substances that activate the enzymes, or faulty transport compounds. (encyclopedia.com)
• Primary or overflow aminoaciduria results from deficiencies in the enzymes necessary to metabolize amino acids. (thefreedictionary.com)

Essential amino1

• In United States, the disease usually does not manifest because the diet is rich in essential amino acids. (ispub.com)

Sugars2

• These restrictions and supplementations are specific for each disorder, and they may include the restriction of total fats, simple sugars, or total carbohydrates. (encyclopedia.com)
• The sugars will be transported by the cytoskeleton through the epithelial cells and released in the connective matrix of the lamina basalis, as the concentrations will rapidly increase, diffusion towards the capillaries follows automatically. (fichier-pdf.fr)

Kidneys4

• It is a sodium dependant and chloride independent neutral amino acid transporter seen predominantly in kidneys and intestine. (ispub.com)
• An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. (malacards.org)
• Despite current treatments, the disorder can cause recurrent episodes of metabolic acidosis (when the body produces too much acid, or when the kidneys are not removing enough acid from the body), feeding difficulties, poor growth, enlarged liver, kidney disease, pancreatitis (inflammation of the pancreas), intellectual disability and early death. (eurekalert.org)
• Indole is converted to indican in the liver, where it is conjugated and transported to the kidneys for excretion (i.e. indicanuria). (renalandurologynews.com)

Aminoaciduria1

• Melana SB, Dallaire L, Lemieux B, Robitaille P, Porter M: Dicarboxylic aminoaciduria: an inborn error of amino acid conservation. (springer.com)

Catabolism1

• Amino acidopathies and organic acidemias, resulting from disorders in amino or fatty acid catabolism, present with seizures and cognitive, behavioral, or motor disturbances resulting from the accumulation of toxic intermediaries, or possible structural damage [ 1 ]. (hindawi.com)

Caused by mutations1

• Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (medscape.com)

Error3

• Metabolite amyloids: a new paradigm for inborn error of metabolism disorders. (nih.gov)
• Procreation in families with inborn error of metabolism--new challenges for medical care. (nih.gov)
• Living with an inborn error of metabolism detected by newborn screening-parents' perspectives on child development and impact on family life. (nih.gov)

Urea cycle dis5

• Urea cycle disorders are included in the category of inborn errors of metabolism . (bionity.com)
• Because many cases of urea cycle disorders remain undiagnosed and/or infants born with the disorders die without a definitive diagnosis, the exact incidence of these cases is unknown and underestimated. (bionity.com)
• Children with severe urea cycle disorders typically show symptoms after the first 24 hours of life. (bionity.com)
• Recently, the number of adult individuals being diagnosed with urea cycle disorders has increased at an alarming rate. (bionity.com)
• Sodium phenylbutyrate decreases plasma branched-chain amino acids in patients with urea cycle disorders," Molecular Genetics and Metabolism, vol. (thefreedictionary.com)

Fatty acid1

• 1. Rinaldo P, Hahn S, Matern D: Inborn errors of amino acid, organic acid, and fatty acid metabolism. (testcatalog.org)

Mutations2

• Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. (medscape.com)
• Milder forms of the disorder have been responsive to riboflavin therapy and are coined riboflavin-responsive MADD (RR-MADD), although due to the varying mutations causing the disease treatment and symptoms can vary considerably. (wikipedia.org)

Pathophysiology1

• Broer S. Apical transporters for neutral amino acids: physiology and pathophysiology. (medscape.com)

Detect inborn1

• Amino acid disorder screening is done in newborns, and sometimes children and adults, to detect inborn errors in metabolism of amino acids. (thefreedictionary.com)

Urinary2

• A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. (medscape.com)
• Urinary indoxyl derivatives (like 5-hydroxy-indol-acetic acid) may be demonstrated following the tryptophan load. (renalandurologynews.com)

Purine3

• Purine-Pyrimidine Metabolism, Inborn Errors" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (umassmed.edu)
• This graph shows the total number of publications written about "Purine-Pyrimidine Metabolism, Inborn Errors" by people in this website by year, and whether "Purine-Pyrimidine Metabolism, Inborn Errors" was a major or minor topic of these publications. (umassmed.edu)
• Below are the most recent publications written about "Purine-Pyrimidine Metabolism, Inborn Errors" by people in Profiles. (umassmed.edu)

Rare inborn1

• Many "medical foods" are designed to help manage patients with rare inborn errors of metabolism (IEMs), and can help prevent serious and life-threatening complications. (eurekalert.org)

Accumulation1

• interventions Treatment for some pathological inborn errors may be removal of food in the diet containing the nondegradable metabolite to prevent its accumulation. (thefreedictionary.com)

Neonatal1

• MS/MS technology may assist in detecting metabolic disorders during the neonatal period (first 28 days of life) that previously were diagnosed only after symptoms had developed. (loveysmarket.com)

Lysosomal1

• Lysosomal Storage, Peroxisomal, and Glycosylation Disorders and Smith-Lemli-Opitz Syndrome Presenting in the Neonate Part VII Basic Newborn Care 24. (geneeskundeboek.nl)