[…] 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]

• Progressive Intellectual Disability 

  This results in severe progressive intellectual disability, if untreated by diet [ 8 ]. Newborn screening for PKU has been performed by heel prick since 1969. A low phenylalanine diet is required. [patient.info]

• Fatigue

  Characterized by hyperglycemia, symptoms of diabetes include frequent urination, increased thirst, dehydration, weight loss, blurred vision, fatigue, and, occasionally, coma. [encyclopedia.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]

  It is characterized by hypoglycemia or low blood sugar, lethargy or lack of energy and vomiting. [biotechnologyforums.com]

• 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]

• 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]

• 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]

• 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]

  If left untreated, it can cause seizures, liver damage, brain damage and death. About one in 17,000 babies in the US is diagnosed with MCAD deficiency each year. [whattoexpect.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]

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]

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]

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]