In Born Errors Of Metabolism Pdf Files

Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of metabolism.

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 disorders.

He is known for work that prefigured the "one gene-one enzyme" hypothesis , based on his studies on the nature and inheritance of alkaptonuria.

Inborn errors of amino acid metabolism

His seminal text, Inborn Errors of Metabolism was published in Traditionally the inherited metabolic diseases were classified 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. Because of the enormous number of these diseases and wide range of systems affected, nearly every "presenting complaint" to a healthcare provider 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.

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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. 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. A review reported that even with all these diagnostic tests, there are cases when "biochemical testing, gene sequencing, and enzymatic testing can neither confirm nor rule out an IEM, resulting in the need to rely on the patient's clinical course.

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.

Inborn Errors of Metabolism (Metabolic Disorders)

Some of the more common or promising therapies are listed:. From Wikipedia, the free encyclopedia. Redirected from Metabolic deficiencies. Disorders of carbohydrate metabolism E. Disorders of porphyrin metabolism E. Growth failure , failure to thrive , weight loss Ambiguous genitalia , delayed puberty , precocious puberty Developmental delay , seizures , dementia , encephalopathy , stroke Deafness , blindness , pain agnosia Skin rash , abnormal pigmentation , lack of pigmentation, excessive hair growth , lumps and bumps Dental abnormalities Immunodeficiency , low platelet count , low red blood cell count , enlarged spleen , enlarged lymph nodes Many forms of cancer Recurrent vomiting , diarrhea , abdominal pain Excessive urination , kidney failure , dehydration , edema Low blood pressure , heart failure , enlarged heart , hypertension , myocardial infarction Liver enlargement , jaundice , liver failure Unusual facial features, congenital malformations Excessive breathing hyperventilation , respiratory failure Abnormal behavior, depression , psychosis Joint pain, muscle weakness, cramps Hypothyroidism , adrenal insufficiency , hypogonadism , diabetes mellitus.

Dietary restriction E.


Vitamins E. Intermediary metabolites, compounds, or drugs that facilitate or retard specific metabolic pathways Dialysis Enzyme replacement E. Acid-alpha glucosidase for Pompe disease Gene therapy Bone marrow or organ transplantation Treatment of symptoms and complications Prenatal diagnosis. Retrieved Mayo Clinic. Journal of Neonatal-Perinatal Medicine : 1—5. Journal of Inborn Errors of Metabolism and Screening. Molecular Genetics and Metabolism.

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JAMA Pediatrics. Inborn error of carbohydrate metabolism : monosaccharide metabolism disorders E73—E74 , Including glycogen storage diseases GSD.

Congenital alactasia Sucrose intolerance. Glucose-galactose malabsorption Inborn errors of renal tubular transport Renal glycosuria Fructose malabsorption.

Essential fructosuria Fructose intolerance. Glucosephosphate dehydrogenase deficiency Transaldolase deficiency 6-phosphogluconate dehydrogenase deficiency. Hyperoxaluria Primary hyperoxaluria Pentosuria Aldolase A deficiency.

In born errors of metabolism pdf files

Inborn error of amino acid metabolism E70—E72 , Glutaric acidemia type 1 type 2 Hyperlysinemia Pipecolic acidemia Saccharopinuria. Carnosinemia Histidinemia Urocanic aciduria. Hyperprolinemia Prolidase deficiency. Hypervalinemia Isobutyryl-CoA dehydrogenase deficiency Maple syrup urine disease. Cystathioninuria Homocystinuria Hypermethioninemia.

Methylmalonic acidemia Methylmalonyl-CoA mutase deficiency Propionic acidemia. Dopamine beta hydroxylase deficiency reverse: Brunner syndrome. Solute carrier family : Cystinuria Hartnup disease Iminoglycinuria Lysinuric protein intolerance Fanconi syndrome : Oculocerebrorenal syndrome Cystinosis. Inborn error of lipid metabolism : fatty-acid metabolism disorders E Biotinidase deficiency BTD.

Propionic acidemia PCC deficiency. Malonic aciduria MCD.

Symptoms, Causes, Diagnosis, and Treatment of a Rare Group of Diseases

Inborn error of lipid metabolism : dyslipidemia E78 , Lecithin cholesterol acyltransferase deficiency Tangier disease.

Abetalipoproteinemia Apolipoprotein B deficiency Chylomicron retention disease. Barraquer—Simons syndrome. Heme metabolism disorders E80 , ALAD porphyria Acute intermittent porphyria. Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria. Gilbert's syndrome Crigler—Najjar syndrome Lucey—Driscoll syndrome. Dubin—Johnson syndrome Rotor syndrome.

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Inborn error of purine—pyrimidine metabolism E79 , Adenylosuccinate lyase deficiency Adenosine Monophosphate Deaminase Deficiency type 1. Adenosine deaminase deficiency Purine nucleoside phosphorylase deficiency Xanthinuria Gout Mitochondrial neurogastrointestinal encephalopathy syndrome. Orotic aciduria Miller syndrome.

Inborn Errors of Metabolism in Infancy: A Guide to Diagnosis

Dihydropyrimidine dehydrogenase deficiency. Inborn errors of steroid metabolism.

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Aromatase deficiency Aromatase excess syndrome. X-linked ichthyosis Antley—Bixler syndrome. Metabolic disorders of vitamins , coenzymes, and cofactors. Biotinidase deficiency Holocarboxylase synthetase deficiency.

Inborn errors of metabolism

B5 Pantothenate kinase-associated neurodegeneration B12 Methylmalonic acidemia. Familial isolated vitamin E deficiency. Tetrahydrobiopterin deficiency Molybdenum cofactor deficiency. Metabolism portal.

Overview of Inborn Errors of Metabolism

Categories : Inborn errors of metabolism Medical genetics Metabolism. Hidden categories: All articles with unsourced statements Articles with unsourced statements from February Namespaces Article Talk. Views Read Edit View history. In other projects Wikimedia Commons. By using this site, you agree to the Terms of Use and Privacy Policy. Medical genetics. Disease involving amino acids e.

PKU , organic acids, primary lactic acidosis, galactosemia, or a urea cycle disease. Lysosomal storage disease.

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Respiratory chain-based mitochondrial disease. Glycogen storage disease. Disaccharide catabolism Congenital alactasia Sucrose intolerance. Monosaccharide catabolism Fructose : Essential fructosuria Fructose intolerance. Histidine Carnosinemia Histidinemia Urocanic aciduria. Anabolism Orotic aciduria Miller syndrome.