[…] that these diseases can present throughout life. [clinicaladvisor.com]

In addition, patients with sulfite oxidase deficiency, serine deficiency, or GABA-related disorders may also present with different types of seizures. [ncbi.nlm.nih.gov]

They present with muscle weakness and exercise intolerance. [jnnp.bmj.com]

Many metabolic disorders present in the newborn period or shortly thereafter. Patients may present later, for example during intercurrent illnesses. [rch.org.au]

Appreciate that although most classic metabolic disorders present in infancy, most conditions can also present with milder variants later in life. [pedsinreview.aappublications.org]

• Hemophilia A

  […] disorder SLC6A19 Hawkinsinuria HPD HDL deficiency, type 2 ABCA1 Hemochromatosis classical HFE Hemochromatosis type 2A HFE2 Hemochromatosis type 2B HAMP Hemochromatosis type 3 TFR2 Hemochromatosis type 4 SLC40A1 Hemolytic anemia due to G6PD deficiency G6PD Hemophilia [centogene.com]

  Prospective cohorts have been constructed for other diseases, notably childhood cancers and hemophilia. [cdc.gov]

• Developmental Delay

  delay/cherry red spot on macula/lysosomes with onion skin/no hepatosplenomegalyNone KrabbesGalactocerebrosidaseGalactocerebrosideNoneARPeripheral neuropathy/developmental delay/optic atrophy/globoid cellsNone Metachromic LeukodystrophyArylsulfatase ACerebroside [memorize.com]

  He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. [ggc.org]

  Infants diagnosed clinically prior to newborn screening exhibited failure to thrive, muscle weakness, and developmental delay. [maine.gov]

  Less severe mutations cause milder illness, which presents later in life with developmental delay, episodes of metabolic decompensation, seizures, and ataxia. [neuropathology-web.org]

  Features include neurologic abnormalities (developmental delay, low tone, seizures), respiratory abnormalities, and/or skin and hair findings. [clinicaladvisor.com]

• Disability

  If not detected and treated early, MSUD can cause intellectual disability, physical disability, and even death. MSUD makes urine (pee) smell like maple syrup or sweet, burnt sugar. [kidshealth.org]

  It can result in cataracts, an enlarged liver, an enlarged spleen and intellectual disability. [patient.info]

  By-products of these amino acids build up, causing neurologic changes, including seizures and intellectual disability. These by-products also cause body fluids and substances, such as urine, sweat, and earwax, to smell like maple syrup. [merckmanuals.com]

  A buildup of this amino acid in the bloodstream can affect brain development and lead to intellectual and developmental disability. [whattoexpect.com]

  Intellectual disability and psychiatric disorders also may be present. [britannica.com]

• Pain

  After returning from the Beagle in 1836, Charles Darwin suffered for over 40 years from long bouts of vomiting and intestinal pain, among other undiagnosed ailments. [powerofthegene.com]

  Accumulations in the bone marrow can cause pain and destroy bone. Most people who have Gaucher's disease develop type 1, the chronic form, which results in an enlarged liver and spleen and bone abnormalities. [encognitive.com]

  This disorder, at early childhood causes photophobia, excessive tearing, retarded mental development, affects the skin and eyes, causes redness pain in the eyes, painful skin lesions and lastly reduces intellectual development. [biotechnologyforums.com]

  Enzyme replacement can reduce storage, ease pain, and improve organ function. [newworldencyclopedia.org]

  This inability can result in pain, bone damage, and even death. It’s treated with enzyme replacement therapy. [healthline.com]

• Epilepsy

  […] α-Oxidation Disorders in Mitochondrial β-Oxidation Disorders in Carnitine-Mediated Transport and Carnitine Uptake back to the top Kearns-Sayre Syndrome Mitochondrial myopathy, Encephalopathy, Lactic acidosis, and Stroke-like episodes (MELAS) Myoclonic Epilepsy [themedicalbiochemistrypage.org]

  Disorders X-linked ALD (Adrenoleukodystrophy) AMN (Adrenomyeloneuropathy) Refsum Disease Zellweger syndrome Mitochondrial disorders MELAS (Encephalomyopathy, lactic acidosis, stroke-like episodes, small stature, migraine, diabetes mellitus) MERRF (Myoclonic Epilepsy [uhb.nhs.uk]

  […] and ragged-red fibers (MERRF) progressive myoclonic epilepsy clumps of diseased mitochondria accumulate in the subsarcolemmal region of the muscle fiber and appear as "ragged-red fibers" when muscle is stained with modified Gomori trichrome stain short [newworldencyclopedia.org]

  These include Leber's hereditary optic atrophy (LHON), neuropathy ataxia and retinitis pigmentosa (NARP), mitochondrial encephalopathy with lactic acidaemia and stroke-like episodes (MELAS), and myoclonic epilepsy with ragged red fibres (MERRF). 23 Also [jnnp.bmj.com]

  […] should be treated initially with traditional antiepileptic drugs, but patients with rare inborn errors of metabolism may respond to other treatments (e.g., oral pyridoxine in a dosage of 5 mg per kg per day) if rare disorders such as pyridoxine-dependent epilepsy [aafp.org]

• Amyloidosis

  Symptoms of amyloidosis depend on the organs it affects. The wide range of symptoms often makes amyloidosis difficult to diagnose. [encyclopedia.com]

  See also Amyloidosis; Hemoglobin; Sickle cell disease. [encognitive.com]

  Adrenal hypoplasia NR0B1 Alkaptonuria HGD Alpha-2-macroglobulin deficiency A2M Alpha-ketoglutarate dehydrogenase deficiency OGDH Alpha-methylacyl CoA racemase deficiency AMACR Aminoacylase deficiency ACY1 AMP deaminase deficiency, erythrocytic AMPD3 Amyloidosis [centogene.com]

  […] defect not known), lysosomal defects (especially late onset variants) Peripheral neuropathy with or without dysautonomia Acute intermittent porphyria, peroxisome assembly defect, some cases of Refsum disease, some cases of abetalipoproteinemia, familial amyloidosis [emedicine.medscape.com]

• Vomiting

  In the milder forms, children initially appear normal, but during infection, surgery, or other physical stress, they can develop vomiting, staggering, confusion, and coma. [merckmanuals.com]

  They refused to eat, followed by vomiting, rapid respirations, lethargy, and coma. Seizures are common. [maine.gov]

  […] hypotonia respiratory compromise/apnoea progressive encephalopathy and seizures clinical picture often mistaken for sepsis Childhood: recurrent unexplained vomiting with severe dehydration stroke like episodes acute liver or renal failure cardiomyopathy [rch.org.au]

  When galactose builds up in a baby’s system it can damage the liver, kidneys, eyes and brain, causing vomiting, jaundice, convulsions, and eventually liver disease, kidney failure, retardation, and death. [whattoexpect.com]

  In neonates, symptoms of poor feeding, vomiting, lethargy progressing to coma and convulsions develop within days of starting feeding. [patient.info]

• Failure to Thrive

  Infants diagnosed clinically prior to newborn screening exhibited failure to thrive, muscle weakness, and developmental delay. [maine.gov]

  Later onset of acute, intermittent attacks of coma, lethargy or other neurologic findings Chronic presentation with hypotonia, failure to thrive, and vomiting, which can be punctuated by intermittent crises 3-MCC deficiency can present as a Reye-like [clinicaladvisor.com]

  […] to thrive/orotic acid in urineOral uridine memorize [memorize.com]

  In general, infants and children who present with the following signs/symptoms may be investigated for a congenital metabolic disease, depending on their entire clinical picture and medical case history: Failure to thrive Growth failure Developmental [mindd.org]

  Considerations in Older Infants and Children Older infants with inborn errors of metabolism may demonstrate paroxysmal stupor, lethargy, emesis, failure to thrive, or organomegaly. [aafp.org]

• Nausea

  • Other symptoms include failure to walk or talk, seizures, tremor, microcephaly, nausea and vomiting, an eczema-like rash, • Lighter skin and hair than their family members, aggressive or self-injurious behavior, hyperactivity, and sometimes psychiatric [slideshare.net]

  Other symptoms include seizures, nausea and vomiting, an eczema-like rash, lighter skin and hair than their family members, aggressive or self-injurious behavior, hyperactivity, and sometimes psychiatric symptoms. [encognitive.com]

• Vomiting in Infancy

  Persistent vomiting in infancy with no clear explanation should raise suspicion of IEM, possibly a defect of protein metabolism. Presence of severe metabolic acidosis with increased anion gap should arouse suspicion of an IEM. [patient.info]

• Hiccup

  Non-ketotic hyperglycinemia is characterized by seizures, low muscle tone, hiccups, breath holding, and severe developmental impairment. [britannica.com]

• Heart Failure

  […] decay or cardiac failure). [newworldencyclopedia.org]

  dehydration, edema * Hypotension, heart failure, enlarged heart, hypertension, myocardial infarction * Hepatomegaly, jaundice, liver failure * Unusual facial features, congenital malformations * Excessive breathing (hyperventilation), respiratory failure [encognitive.com]

  Uncontrolled hyperglycemia over time damages the eyes, nerves, blood vessels, kidneys, and heart, causing organ dysfunction and failure. [encyclopedia.com]

• Muscle Weakness

  They present with muscle weakness and exercise intolerance. [jnnp.bmj.com]

  Long-Chain Acyl-CoA Dehydrogenase Deficiency (LCAD) Features include chronic problems such as muscle weakness and heart muscle enlargement and dysfunction. [maine.gov]

  When this enzyme is mutated, it causes argininosuccinic aciduria which is also an autosomal recessive disorder which is not common.This leads to accumulation of compounds in the body which leads to hypothermia, vomiting, lethargy, muscle weakness, liver [biotechnologyforums.com]

  The child becomes weak and may have vomiting or seizures. Over the long term, children have delayed mental and physical development, an enlarged liver, heart muscle weakness, and an irregular heartbeat. Sudden death may occur. [encognitive.com]

  Given the number of metabolic disorders and the range of systems affected, these disorders are manifested in a wide array of symptoms of varying severity, ranging from recurrent vomiting, lethargy, and muscle weakness, to liver and heart failure, developmental [newworldencyclopedia.org]

• Eczema

  […] tremor/asterixis/slurring/somnolence/vomiting/cerebral edema/blurred vision) PhenylketonuriaPhenylalanine hydroxylase (or cofactor tetrahydrobiopterin)Phenylalanine/phenylketones in urineNoneARMental retardation/growth retardation/seizures/fair skin/eczema [memorize.com]

  Symptoms can include delayed mental or social skills, seizures or tremors, hyperactivity, skin rashes (eczema), small head size, and a musty odor in the child's breath, skin, or urine. [whattoexpect.com]

  • Other symptoms include failure to walk or talk, seizures, tremor, microcephaly, nausea and vomiting, an eczema-like rash, • Lighter skin and hair than their family members, aggressive or self-injurious behavior, hyperactivity, and sometimes psychiatric [slideshare.net]

  Untreated individuals may also develop microcephaly, delayed or absent speech, seizures, eczema, and behavioral abnormalities. Early treatment of PKU is associated with improved intellectual outcome. [maine.gov]

  Other symptoms include seizures, nausea and vomiting, an eczema-like rash, lighter skin and hair than their family members, aggressive or self-injurious behavior, hyperactivity, and sometimes psychiatric symptoms. [encognitive.com]

• Seizure

  In monoamine biosynthesis disorders, seizures are rare, but paroxysmal dystonia is frequently misdiagnosed as seizures. Therefore, the incidence of seizures in disorders of amino acid metabolism is variable. [ncbi.nlm.nih.gov]

  The metabolic encephalopathy is often accompanied by respiratory depression, seizures, and hypoxic-ischemic brain injury. [neuropathology-web.org]

  In the most severe form, infants have vomiting and lethargy and then develop neurologic abnormalities, including seizures and coma, during the first days of life and can die within days to weeks if untreated. [merckmanuals.com]

  Hypoglycaemia and/or seizures treated as per guidelines See Hypoglycaemia Intravenous medications to chelate or divert toxic metabolites, or replenish deficient metabolites, depending on metabolic problem (e.g. [rch.org.au]

  Seizures and optic atrophy develop and most die in the first decade of life. [patient.info]

• Convulsions

  When galactose builds up in a baby’s system it can damage the liver, kidneys, eyes and brain, causing vomiting, jaundice, convulsions, and eventually liver disease, kidney failure, retardation, and death. [whattoexpect.com]

  In neonates, symptoms of poor feeding, vomiting, lethargy progressing to coma and convulsions develop within days of starting feeding. [patient.info]

  Infants develop difficulty walking, followed by intermittent pain in the arms and legs, progressive loss of vision, developmental delays, impaired swallowing, convulsions, and dementia before age 2. [newworldencyclopedia.org]

• Phenylketonuria

  Medical foods made from glycomacropeptide have been used successfully for the management of phenylketonuria and tyrosinemia. [ncbi.nlm.nih.gov]

  GUTHRIE'S 1 2 3 recently introduced bacterial inhibition assay provides a simple and practical mass screening method for phenylketonuria. [nejm.org]

  Completed NCT01732471 Phase 3 Kuvan® 25 Phenylbutyrate Therapy for Maple Syrup Urine Disease Completed NCT01529060 Phase 2, Phase 3 Phenylbutyrate;Placebo powder 26 Kuvan® in Phenylketonuria Patients Less Than 4 Years Old Completed NCT01376908 Phase [malacards.org]

  Phenylketonuria Phenylketonuria, or PKU for short, is a genetic disorder in which the enzyme phenylalanine hydroxylase (PAH) is missing. PAH is needed to break down the amino acid phenylalanine. [study.com]

  They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form proteins. If you have one of these disorders, your body may have trouble breaking down certain amino acids. [medlineplus.gov]

• Kidney Failure

  When galactose builds up in a baby’s system it can damage the liver, kidneys, eyes and brain, causing vomiting, jaundice, convulsions, and eventually liver disease, kidney failure, retardation, and death. [whattoexpect.com]

  People with Fabry's disease eventually develop kidney failure and heart disease, although most often they live into adulthood. Kidney failure may lead to high blood pressure, which may result in stroke. [encognitive.com]

  Persons with the classic form of methylmalonic acidemia (MMA), caused by a defect in the enzyme methylmalonyl-CoA mutase, have symptoms similar to individuals with propionic acidemia but may also develop the long-term complication of kidney failure. [britannica.com]

  About 40 percent of people with type 1 diabetes develop severe kidney disease and kidney failure by the age of fifty. [encyclopedia.com]

Assessment of Cardiac Involvement in Fabry Disease (FD) with Native T1 Mapping Mass-spectrometry based quantification of biomarkers is a routine step in the diagnostic workup of many diseases at CENTOGENE. [centogene.com]

• Hypercholesterolemia

  Hyperlipidemia and Hypercholesterolemia. Dietary fats are distributed through the body attached to proteins, in lipoprotein complexes. [medicine.jrank.org]

  Disease Graves disease back to the top GLUT1 Deficiency Sydrome Glycogen Storage Diseases Fructose, Galactose and Glycerol Glucose-6-phosphate Dehydrogenase Deficiency Erythrocyte Pyruvate Kinase Deficiency back to the top Hyperlipoproteinemias Familial Hypercholesterolemia [themedicalbiochemistrypage.org]

  […] autosomal dominant type 3 PCSK9 Hypercholesterolemia autosomal recessive LDLRAP1 Hypercholesterolemia due to LDL-receptor-disorder autosomal dominant LDLR Hypercholesterolemia type B autosomanl dominant APOB Hyperchylomicronemia type 5 APOA5 Hyperinsulinaemia [centogene.com]

  […] disorders (1:20,000) Mitochondrial disorders (1:30,000; e.g., lipoamide dehydrogenase deficiency [rare]) Myoadenylate deaminase deficiency (1:100,000) Familial myocardial infarct/stroke 5,10-methylenetetrahydrofolate reductase deficiency (common) Familial hypercholesterolemia [aafp.org]

  Familial hypercholesterolemia is caused by a deficiency of a receptor on the surface of cells in the liver and other organs, so that cholesterol remains in the blood rather than being moved into the cells. [newworldencyclopedia.org]

Some babies may also need additional treatments if there are complications. [medlineplus.gov]

Treatments are costly and require to maintain a healthy condition .If treatment is started early and continued, babies can develop normally and have normal IQ. Please consider giving to ANPAD. [anpadnews.org]

Treatment consists of phenylalanine restricted medical formula. Outcome: without treatment, classic PKU results in mental retardation. With treatment and good dietary compliance most individuals do well. [maine.gov]

The patient may require hemodialysis/hemofiltration for extreme elevations of leucine, together with dietary treatment. [clinicaladvisor.com]

Treatment for PKU Dietary treatment of PKU begins with limiting the amount of phenylalanine going into the blocked pathway. [medschool.lsuhsc.edu]

Timely diagnosis and early treatment may improve the prognosis of these disorders. Copyright © 2011 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved. [ncbi.nlm.nih.gov]

Prognosis is poor for symptomatic newborns. Children with mild disease usually do well on a protein-restricted diet. Mild to moderate intellectual disabilities are common even in well-treated patients. [maine.gov]

[…] exhibit high diffusion signal MR spectroscopy: single-voxel proton MR spectroscopy may show the presence of branched-chain amino acids and branched-chain alpha-keto acids resonating at 0.9-1.0 ppm, especially during a metabolic crisis 1,2 Treatment and prognosis [radiopaedia.org]

The prognosis is excellent with treatment. Children with maple syrup urine disease are unable to metabolize leucine, isoleucine, and valine. [merckmanuals.com]

Approximately 50 percent of persons with homocystinuria are responsive to treatment with vitamin B 6 (pyridoxine), and these individuals tend to have a better intellectual prognosis. [britannica.com]

An increase or decrease of almost every amino acid in urine can be due to various etiology. To differentiate between primary and secondary aminoacido-pathies systematic laboratory investigation is necessary. [link.springer.com]

Many tissues and organs are affected in metabolic diseases, often severally, and understanding the etiology of some of these more atypical symptoms challenges existing paradigms in diagnosis. [centogene.com]

Epidemiology The incidence is 40 cases/100,000 live births in a Canadian study [ 1 ]. A much higher incidence of 1 in 784 live births has been reported from the West Midlands in the UK [ 2 ]. [patient.info]

Medium chain acyl Co-A dehydrogenase deficiency human genome epidemiology review. Genetics in Medicine 1999;1:3329. [cdc.gov]

Data from combined studies has involved >2,000,000 samples from routine analyses and international screening programs of roughly 7,000 patients diagnosed with different LSDs demonstrates our expertise in these diseases including precise epidemiological [centogene.com]

[…] derivatives Ragged red diseases (ie, limb-girdle neuromuscular diseases with ragged red fibers seen on trichrome stain of frozen biopsied specimens) Defects of mitochondria, especially of the electron transport chain and of proteins coded by mitochondrial DNA Epidemiology [emedicine.medscape.com]

"Prevention of IDDM: The Genetic Epidemiologic Perspective." Diabetes Research and Clinical Practice 34:S101 – S1006. Mandrup-Paulson, Thomas (1998). "Recent Advances: Diabetes." British Medical Journal 316(18):1221 – 1225. [encyclopedia.com]

As a result, we now know many genetic defects responsible for neurological disease, but frequently we do not know much about the resulting protein product and therefore the pathophysiologic basis for the disease. [6] Pathophysiology The human genome at [emedicine.medscape.com]

In those disorders, which cannot be treated, early diagnosis in an index-patient may prevent the birth of other siblings by means of genetic counseling and prenatal diagnosis. [link.springer.com]

Strict compliance is necessary to prevent neurological damage. Glycine - nonketotic hyperglycinaemia, or glycine encephalopathy: It is caused by deficiency of the glycine cleavage multi-enzyme system. [patient.info]

Treatment consists of preventing prolonged fasting through feeding and IV fluids as needed. [maine.gov]

If biotinidase deficiency is detected quickly, problems can be prevented by giving the baby extra biotin. [kidshealth.org]

Some involve carnitine (which helps transport fatty acids to your mitochondria for energy production), while others prevent correct lipid storage. Yet another vast category. [mindd.org]