Materiały źródłowe

• #1 Glutaric aciduria type 1 | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/glutaric-aciduria-type-1?lang=us

  Glutaric aciduria type 1 is rare organic aciduria, with an estimated prevalence of 1 in 100,000 newborns. It is inherited in an autosomal recessive manner, and hence consanguineous marriages are a risk factor. […] Early post-natal diagnosis should be sought as an early treatment prior to metabolic decompensation has the best chance of preventing neurological deterioration. For this reason, all siblings of an affected child and all future pregnancies should be screened for the disease. […] Treatment in the acute stage takes the form of prevention and correction of the catabolic state. In the chronic stage, a low protein diet with carnitine and riboflavin supplements should be given.

• #1 Diagnosis and management of glutaric aciduria type I – revised recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3109243/

  Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. […] It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. […] The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline. […] Timely diagnosis and start of treatment, i.e., before irreversible neurological symptoms occur, results in a better outcome than start of treatment after the onset of neurological disease.

• #1

  https://journals.lww.com/annalsofian/fulltext/2012/15010/glutaric_aciduria_type_i__a_treatable.9.aspx

  GA-I is an autosomal-recessive disorder, and there is a 25% chance of recurrence in future pregnancies. Hence, if a child is diagnosed with this disorder in a family, then prenatal diagnosis can be offered in the subsequent pregnancy. If there are, already, asymptomatic siblings then they should be screened for GA-I and, if positive, initiated on appropriate treatment. This will prevent the occurrence or reduce the severity of encephalopathic crises and ensure good outcome. […] Timely diagnosis and start of treatment, i.e. before an acute encephalopathic crisis, is likely to result in a better outcome than diagnosis and start of treatment after the onset of neurological disease.

• #1 Diagnosis and management of glutaric aciduria type I – revised recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3109243/

  The aim of newborn and high-risk screening is to reduce the incidence of neurological disease. […] Dietary treatment in combination with oral supplementation of L-carnitine and riboflavin (less frequently) during maintenance treatment, and an intensified emergency treatment during episodes of intercurrent illness are used for the majority of patients. […] It has been demonstrated recently that implementation of metabolic treatment and regular follow-up by specialized metabolic centers improves the outcome of patients with GA-I. […] Statement #6. Metabolic treatment should be implemented by an interdisciplinary team that includes metabolic pediatricians, dietitians, and nurses. […] Statement #7. A low lysine diet (i.e., reducing lysine intake to a safe requirement) with or without additional administration of lysine-free, tryptophan-reduced amino acids supplements should be used for dietary treatment, in particular in asymptomatic patients up to age 6 years. […] Emergency treatment should start without delay and should be performed aggressively during febrile illness, surgery and immunization within the vulnerable period for acute encephalopathic crises (up to age 6 years).

• #1

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  Metabolic treatment should be implemented by an interdisciplinary team that includes metabolic pediatricians, dietitians, and nurses. Parents and patients should have regular training and written treatment protocols. […] Most patients remain asymptomatic if treatment is started in the newborn period. Dietary treatment in combination with carnitine and emergency treatment has been demonstrated to be effective in preventing neurological disease. […] Emergency treatment should start without delay and should be performed aggressively during febrile illness, surgery and immunization within the vulnerable period for acute encephalopathic crises (up to age 6 years).

• #1 Glutaric aciduria type I – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/glutaric-aciduria-type-i/

  Management is centred on a lysine-restricted diet and carnitine supplementation. […] Dietary treatment is focused on reduced lysine intake from a low lysine diet, and supplementation of essential amino acids with lysine-free amino acid mixtures. […] Carnitine supplementation is given in order to maintain normal plasma concentrations of free carnitine.

• #1 Glutaric aciduria type 1 (GA-1)

  https://www.nutricia.com/specialize/iem/ga1.html

  GA1 is effectively managed by lifelong adherence to a low lysine diet. The goal of adhering to a low lysine for GA1 diet is to provide the optimal intake of lysine as it is an essential amino acid to ensure good growth but avoid excess intake of this amino acid which can be harmful. […] Lifelong monitoring to ensure optimal amino acid blood levels. The medical team will regularly assess blood samples and recommend dietary adjustments accordingly and as nutritional requirements change depending on the life stage. […] The combination of the all of the above, closely monitored and adjusted according to changing nutritional needs ensures all the essential nutrients are provided to support optimal growth, development and physical health.

• #1

  https://journals.lww.com/annalsofian/fulltext/2012/15010/glutaric_aciduria_type_i__a_treatable.9.aspx

  GA-I is not an uncommon disorder and diagnosis can be made easily based on clinical, laboratory investigations and neuroimaging findings. It is one of the treatable metabolic disorders and, if managed appropriately, favorable prognosis can be given. […] During the last three decades, attempts have been made to establish and optimize therapy for GA-I. Treatment consists of carnitine supplementation (100 mg/kg/day) along with a low protein diet, especially deficient in lysine and tryptophan, and careful management of these children during stressful episodes. […] Therefore, GA-I deficiency is now considered to be a treatable neurometabolic disorder. […] Management includes the prevention or reversal of a catabolic state by administration of a high-energy intake (plus insulin to control for hyperglycemia if required); reduction of GA and 3-OH-GA production by transient reduction or omission of natural protein for 24-48 h; amplification of physiological detoxification mechanisms and prevention of secondary carnitine depletion by L-carnitine supplementation (doubling the maintenance dose of 100 mg/kg day) and maintenance of normal fluid, electrolytes and pH status via enteral of IV fluids.

• #1 Glutaric Acidemia Type 1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2556991/

  Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. […] Early diagnosis and therapy reduce the risk of acute dystonia in patients with GA-1. […] Therefore, early identification is only the first step in preventing the acute neurological deterioration associated with glutaric acidemia type 1. Appropriate treatment and emergency plans need to be in place to minimize the risk of adverse neurological outcome. […] In reviewing the limited experience accumulated so far, a better outcome was obtained with a low-protein diet supplemented with lysine-free special formulas enriched in micronutrients as compared to protein restriction alone. […] All patients caretakers are instructed about the disease and to bring the child to immediate medical attention at a pediatric medical center in case of fever or inability to eat. […] The goal of the emergency management is to reverse the catabolic state and enable the child to eat.

• #1 Glutaric aciduria | MedLink Neurology

  https://www.medlink.com/articles/glutaric-aciduria

  Prevention of the genetic disorder can be addressed through genetic counseling when carriers are identified. […] Prevention of neurologic injury is through careful and intensive management during the vulnerable period for encephalopathic crises. […] Newborn mass screening for glutaric aciduria type 1 by tandem mass spectrometry or high-risk screening of families and communities with a known increased risk can identify affected children before they suffer neurologic injury. […] Diagnosis and initiation of presymptomatic treatment and follow-up by a specialized metabolic center improve the neurologic outcome. […] A meta-analysis comparing screened and unscreened cohorts has confirmed the major impact of newborn screening for glutaric aciduria type I on individual health, but at the same time has highlighted that therapeutic quality becomes a major predictor of neurologic outcome in screened populations. […] Extending preexisting tandem mass spectrometry-based newborn screening programs to include glutaric aciduria type I should be considered a highly cost-effective diagnostic strategy, as demonstrated by the national health systems in Germany and the United Kingdom.

• #1 Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management | Archives of Disease in Childhood

  https://adc.bmj.com/content/82/1/67

  Glutaric aciduria type 1 should be considered in the differential diagnosis of dystonic/dyskinetic cerebral palsy, macrocephaly, and non-accidental injury […] Siblings, older and younger, must be screened […] In presymptomatic patients, supplementation with lcarnitine and intensive dietary treatment with aggressive emergency management results in a favourable outcome.

• #1

  https://www.gov.uk/government/publications/ga1-suspected-description-in-brief/glutaric-aciduria-type-1-ga1-detailed-information

  Untreated GA1 can cause long-term health problems, including brain damage and physical disabilities, but with newborn screening and early treatment this can be prevented. […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. […] The emergency regimen is made up of GA1 specialist infant formula and glucose polymer powder. It is given regularly, day and night, to provide energy and help limit the build-up of harmful substances in the brain and body. […] With treatment, the outcome is usually very good and most children will avoid any long-term health problems. The risk of severe brain damage is low after the age of 6 years. Dietary treatment may be relaxed in later childhood but the emergency regimen and L-carnitine will need to be continued.

• #1 Application | Glutaric Aciduria Type 1 | Comidamed

  https://www.comidamed.com/en/applications-glutaric-aciduria

  GA1 is now regarded as a treatable metabolic disorder and is included in the disease panel of expanded newborn screening in some countries. […] In the majority of patients diagnosed in the neonatal period, brain damage can be prevented by metabolic treatment. This includes dietary treatment in combination with L-carnitine supplementation and emergency treatment during acute episodes of intercurrent illness. […] Dietary treatment aims to reduce the intake of lysine and tryptophan, while maintaining sufficient intake of essential nutrients, minerals, vitamins and trace elements. […] To avoid malnutrition the diet is often combined with the use of lysine-free, tryptophan-reduced amino acids supplements such as comida-GAc A formula.

• #2 Glutaric Acidemia Type 1

  https://pmc.ncbi.nlm.nih.gov/articles/PMC2556991/

  Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. […] Early diagnosis and therapy reduce the risk of acute dystonia in patients with GA-1. […] Therefore, early identification is only the first step in preventing the acute neurological deterioration associated with glutaric acidemia type 1. Appropriate treatment and emergency plans need to be in place to minimize the risk of adverse neurological outcome. […] In reviewing the limited experience accumulated so far, a better outcome was obtained with a low-protein diet supplemented with lysine-free special formulas enriched in micronutrients as compared to protein restriction alone. […] All patients caretakers are instructed about the disease and to bring the child to immediate medical attention at a pediatric medical center in case of fever or inability to eat. […] The goal of the emergency management is to reverse the catabolic state and enable the child to eat.

• #2

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. […] It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. […] Timely diagnosis and start of treatment, i.e., before irreversible neurological symptoms occur, results in a better outcome than start of treatment after the onset of neurological disease. The aim of newborn and high-risk screening is to reduce the incidence of neurological disease.

• #2 Glutaric aciduria type 1 | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/glutaric-aciduria-type-1?lang=us

  Glutaric aciduria type 1 is rare organic aciduria, with an estimated prevalence of 1 in 100,000 newborns. It is inherited in an autosomal recessive manner, and hence consanguineous marriages are a risk factor. […] Early post-natal diagnosis should be sought as an early treatment prior to metabolic decompensation has the best chance of preventing neurological deterioration. For this reason, all siblings of an affected child and all future pregnancies should be screened for the disease. […] Treatment in the acute stage takes the form of prevention and correction of the catabolic state. In the chronic stage, a low protein diet with carnitine and riboflavin supplements should be given.

• #2

  https://www.gov.uk/government/publications/ga1-suspected-description-in-brief/glutaric-aciduria-type-1-ga1-detailed-information

  It is therefore very important to get them tested if they have not been previously screened for GA1. Your metabolic team will be able to arrange this testing. […] The metabolic team will write a birth plan for you. This will include advice on an early screening test for your new baby which should be taken between 24 and 48 hours after birth.

• #2

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  Metabolic treatment should be implemented by an interdisciplinary team that includes metabolic pediatricians, dietitians, and nurses. Parents and patients should have regular training and written treatment protocols. […] Most patients remain asymptomatic if treatment is started in the newborn period. Dietary treatment in combination with carnitine and emergency treatment has been demonstrated to be effective in preventing neurological disease. […] Emergency treatment should start without delay and should be performed aggressively during febrile illness, surgery and immunization within the vulnerable period for acute encephalopathic crises (up to age 6 years).

• #2 Glutaric aciduria type I – Genomics Education Programme

  http://www.genomicseducation.hee.nhs.uk/documents/glutaric-aciduria-type-i/

  Management is centred on a lysine-restricted diet and carnitine supplementation. […] Dietary treatment is focused on reduced lysine intake from a low lysine diet, and supplementation of essential amino acids with lysine-free amino acid mixtures. […] Carnitine supplementation is given in order to maintain normal plasma concentrations of free carnitine.

• #2 Glutaric aciduria type 1 (GA-1)

  https://www.nutricia.com/specialize/iem/ga1.html

  GA1 is effectively managed by lifelong adherence to a low lysine diet. The goal of adhering to a low lysine for GA1 diet is to provide the optimal intake of lysine as it is an essential amino acid to ensure good growth but avoid excess intake of this amino acid which can be harmful. […] Lifelong monitoring to ensure optimal amino acid blood levels. The medical team will regularly assess blood samples and recommend dietary adjustments accordingly and as nutritional requirements change depending on the life stage. […] The combination of the all of the above, closely monitored and adjusted according to changing nutritional needs ensures all the essential nutrients are provided to support optimal growth, development and physical health.

• #2 Glutaric Aciduria Type 1 (GA1) – Inherited Metabolic Disorders in Scotland

  https://www.imd.scot.nhs.uk/glutaric-aciduria-type-1-ga1/

  Babies with GA1 benefit significantly from early treatment and can live healthy and active lives. […] Without early diagnosis and treatment they can develop serious illness and damage to the brain. […] Treatment for GA1 involves a special low protein diet and medication. […] The aim of the diet is to reduce the build-up of toxins. […] High protein foods and milk, including breast milk and normal infant formula, have to be limited. […] This special infant formula is very important. It allows normal growth and development and helps reduce the build-up of the harmful toxins in the brain. […] L-Carnitine helps clear some of the bodys toxins. It is taken by mouth and obtained on prescription through your doctor. It should be taken regularly even when your baby is ill.

• #2

  https://www.gov.uk/government/publications/ga1-suspected-description-in-brief/glutaric-aciduria-type-1-ga1-detailed-information

  Untreated GA1 can cause long-term health problems, including brain damage and physical disabilities, but with newborn screening and early treatment this can be prevented. […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. […] The emergency regimen is made up of GA1 specialist infant formula and glucose polymer powder. It is given regularly, day and night, to provide energy and help limit the build-up of harmful substances in the brain and body. […] With treatment, the outcome is usually very good and most children will avoid any long-term health problems. The risk of severe brain damage is low after the age of 6 years. Dietary treatment may be relaxed in later childhood but the emergency regimen and L-carnitine will need to be continued.

• #2 Glutaric Aciduria Type 1 – Metabolic Support UKAccessibility ToolsIncrease TextDecrease TextGrayscaleHigh ContrastNegative ContrastLight BackgroundLinks UnderlineReadable FontReset

  https://metabolicsupportuk.org/condition/glutaric-aciduria-type-1/

  GA1 is a serious inherited metabolic disorder that can lead to severe movement problems. Children are very vulnerable in the first 6 years of life. Damage can be prevented with a protein-restricted diet, a protein substitute and carnitine. […] In GA1, it is important that enough protein is given for growth…but not too much as toxic chemicals will be made. […] With good management, severe movement problems can be prevented in the majority of children.

• #2

  https://journals.lww.com/annalsofian/fulltext/2012/15010/glutaric_aciduria_type_i__a_treatable.9.aspx

  GA-I is not an uncommon disorder and diagnosis can be made easily based on clinical, laboratory investigations and neuroimaging findings. It is one of the treatable metabolic disorders and, if managed appropriately, favorable prognosis can be given. […] During the last three decades, attempts have been made to establish and optimize therapy for GA-I. Treatment consists of carnitine supplementation (100 mg/kg/day) along with a low protein diet, especially deficient in lysine and tryptophan, and careful management of these children during stressful episodes. […] Therefore, GA-I deficiency is now considered to be a treatable neurometabolic disorder. […] Management includes the prevention or reversal of a catabolic state by administration of a high-energy intake (plus insulin to control for hyperglycemia if required); reduction of GA and 3-OH-GA production by transient reduction or omission of natural protein for 24-48 h; amplification of physiological detoxification mechanisms and prevention of secondary carnitine depletion by L-carnitine supplementation (doubling the maintenance dose of 100 mg/kg day) and maintenance of normal fluid, electrolytes and pH status via enteral of IV fluids.

• #3 Diagnosis and management of glutaric aciduria type I – revised recommendations

  https://pmc.ncbi.nlm.nih.gov/articles/PMC3109243/

  Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. […] It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. […] The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline. […] Timely diagnosis and start of treatment, i.e., before irreversible neurological symptoms occur, results in a better outcome than start of treatment after the onset of neurological disease.

• #3 Glutaric aciduria | MedLink Neurology

  https://www.medlink.com/articles/glutaric-aciduria

  Prevention of the genetic disorder can be addressed through genetic counseling when carriers are identified. […] Prevention of neurologic injury is through careful and intensive management during the vulnerable period for encephalopathic crises. […] Newborn mass screening for glutaric aciduria type 1 by tandem mass spectrometry or high-risk screening of families and communities with a known increased risk can identify affected children before they suffer neurologic injury. […] Diagnosis and initiation of presymptomatic treatment and follow-up by a specialized metabolic center improve the neurologic outcome. […] A meta-analysis comparing screened and unscreened cohorts has confirmed the major impact of newborn screening for glutaric aciduria type I on individual health, but at the same time has highlighted that therapeutic quality becomes a major predictor of neurologic outcome in screened populations. […] Extending preexisting tandem mass spectrometry-based newborn screening programs to include glutaric aciduria type I should be considered a highly cost-effective diagnostic strategy, as demonstrated by the national health systems in Germany and the United Kingdom.

• #3 Prevention of cerebral palsy in glutaric aciduria type 1 by dietary management | Archives of Disease in Childhood

  https://adc.bmj.com/content/82/1/67

  Glutaric aciduria type 1 should be considered in the differential diagnosis of dystonic/dyskinetic cerebral palsy, macrocephaly, and non-accidental injury […] Siblings, older and younger, must be screened […] In presymptomatic patients, supplementation with lcarnitine and intensive dietary treatment with aggressive emergency management results in a favourable outcome.

• #3

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  Metabolic treatment should be implemented by an interdisciplinary team that includes metabolic pediatricians, dietitians, and nurses. Parents and patients should have regular training and written treatment protocols. […] Most patients remain asymptomatic if treatment is started in the newborn period. Dietary treatment in combination with carnitine and emergency treatment has been demonstrated to be effective in preventing neurological disease. […] Emergency treatment should start without delay and should be performed aggressively during febrile illness, surgery and immunization within the vulnerable period for acute encephalopathic crises (up to age 6 years).

• #3 Application | Glutaric Aciduria Type 1 | Comidamed

  https://www.comidamed.com/en/applications-glutaric-aciduria

  GA1 is now regarded as a treatable metabolic disorder and is included in the disease panel of expanded newborn screening in some countries. […] In the majority of patients diagnosed in the neonatal period, brain damage can be prevented by metabolic treatment. This includes dietary treatment in combination with L-carnitine supplementation and emergency treatment during acute episodes of intercurrent illness. […] Dietary treatment aims to reduce the intake of lysine and tryptophan, while maintaining sufficient intake of essential nutrients, minerals, vitamins and trace elements. […] To avoid malnutrition the diet is often combined with the use of lysine-free, tryptophan-reduced amino acids supplements such as comida-GAc A formula.

• #3

  https://journals.lww.com/annalsofian/fulltext/2012/15010/glutaric_aciduria_type_i__a_treatable.9.aspx

  GA-I is not an uncommon disorder and diagnosis can be made easily based on clinical, laboratory investigations and neuroimaging findings. It is one of the treatable metabolic disorders and, if managed appropriately, favorable prognosis can be given. […] During the last three decades, attempts have been made to establish and optimize therapy for GA-I. Treatment consists of carnitine supplementation (100 mg/kg/day) along with a low protein diet, especially deficient in lysine and tryptophan, and careful management of these children during stressful episodes. […] Therefore, GA-I deficiency is now considered to be a treatable neurometabolic disorder. […] Management includes the prevention or reversal of a catabolic state by administration of a high-energy intake (plus insulin to control for hyperglycemia if required); reduction of GA and 3-OH-GA production by transient reduction or omission of natural protein for 24-48 h; amplification of physiological detoxification mechanisms and prevention of secondary carnitine depletion by L-carnitine supplementation (doubling the maintenance dose of 100 mg/kg day) and maintenance of normal fluid, electrolytes and pH status via enteral of IV fluids.

• #3 Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis | Genetics in Medicine

  https://www.nature.com/articles/s41436-020-00971-4

  In contrast, postsymptomatic treatment is not thought to improve the neurological outcome since striatal damage cannot be reversed. […] The aim of this meta-analysis of worldwide NBS studies is to evaluate the benefit of NBS programs for individuals with GA1 and to elucidate whether adherence to recommended therapies positively affects the neurologic outcome. […] Patients not following MT guideline recommendations showed a trend for increased relative risk (log risk ratio) for insidious onset MD compared with patients with recommended dietary treatment. […] Patients with delayed ET had an increased RR (log risk ratio) for acute onset MD compared with patients treated according to recommended ET. […] Quality of therapy becomes the major predictor of neurological outcome in a screened population of GA1.

• #3

  https://journals.lww.com/annalsofian/fulltext/2012/15010/glutaric_aciduria_type_i__a_treatable.9.aspx

  GA-I is an autosomal-recessive disorder, and there is a 25% chance of recurrence in future pregnancies. Hence, if a child is diagnosed with this disorder in a family, then prenatal diagnosis can be offered in the subsequent pregnancy. If there are, already, asymptomatic siblings then they should be screened for GA-I and, if positive, initiated on appropriate treatment. This will prevent the occurrence or reduce the severity of encephalopathic crises and ensure good outcome. […] Timely diagnosis and start of treatment, i.e. before an acute encephalopathic crisis, is likely to result in a better outcome than diagnosis and start of treatment after the onset of neurological disease.

• #4

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. […] It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. […] Timely diagnosis and start of treatment, i.e., before irreversible neurological symptoms occur, results in a better outcome than start of treatment after the onset of neurological disease. The aim of newborn and high-risk screening is to reduce the incidence of neurological disease.

• #4 Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis | Genetics in Medicine

  https://www.nature.com/articles/s41436-020-00971-4

  Glutaric aciduria type 1 (GA1), a rare inherited neurometabolic disorder, results in a complex movement disorder (MD) with predominant dystonia if untreated. Implementation into newborn screening (NBS) programs and adherence to recommended therapy are thought to improve the neurological outcome. […] This meta-analysis demonstrates that NBS programs for GA1 have an overall positive effect on the neurological outcome of affected individuals but their success critically depends on the quality of therapy. […] Metabolic treatment consisting of a low lysine diet and carnitine supplementation for maintenance treatment (MT) as well as an intermittent emergency treatment (ET) during episodes that are likely to induce catabolism such as febrile infections is recommended by a revised evidence-based guideline.

• #4

  https://www.gov.uk/government/publications/ga1-suspected-description-in-brief/glutaric-aciduria-type-1-ga1-detailed-information

  It is therefore very important to get them tested if they have not been previously screened for GA1. Your metabolic team will be able to arrange this testing. […] The metabolic team will write a birth plan for you. This will include advice on an early screening test for your new baby which should be taken between 24 and 48 hours after birth.

• #5 Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis | Genetics in Medicine

  https://www.nature.com/articles/s41436-020-00971-4

  In contrast, postsymptomatic treatment is not thought to improve the neurological outcome since striatal damage cannot be reversed. […] The aim of this meta-analysis of worldwide NBS studies is to evaluate the benefit of NBS programs for individuals with GA1 and to elucidate whether adherence to recommended therapies positively affects the neurologic outcome. […] Patients not following MT guideline recommendations showed a trend for increased relative risk (log risk ratio) for insidious onset MD compared with patients with recommended dietary treatment. […] Patients with delayed ET had an increased RR (log risk ratio) for acute onset MD compared with patients treated according to recommended ET. […] Quality of therapy becomes the major predictor of neurological outcome in a screened population of GA1.

• #5

  https://link.springer.com/article/10.1007/s10545-011-9289-5

  Metabolic treatment should be implemented by an interdisciplinary team that includes metabolic pediatricians, dietitians, and nurses. Parents and patients should have regular training and written treatment protocols. […] Most patients remain asymptomatic if treatment is started in the newborn period. Dietary treatment in combination with carnitine and emergency treatment has been demonstrated to be effective in preventing neurological disease. […] Emergency treatment should start without delay and should be performed aggressively during febrile illness, surgery and immunization within the vulnerable period for acute encephalopathic crises (up to age 6 years).

• #6 Glutaric aciduria | MedLink Neurology

  https://www.medlink.com/articles/glutaric-aciduria

  Prevention of the genetic disorder can be addressed through genetic counseling when carriers are identified. […] Prevention of neurologic injury is through careful and intensive management during the vulnerable period for encephalopathic crises. […] Newborn mass screening for glutaric aciduria type 1 by tandem mass spectrometry or high-risk screening of families and communities with a known increased risk can identify affected children before they suffer neurologic injury. […] Diagnosis and initiation of presymptomatic treatment and follow-up by a specialized metabolic center improve the neurologic outcome. […] A meta-analysis comparing screened and unscreened cohorts has confirmed the major impact of newborn screening for glutaric aciduria type I on individual health, but at the same time has highlighted that therapeutic quality becomes a major predictor of neurologic outcome in screened populations. […] Extending preexisting tandem mass spectrometry-based newborn screening programs to include glutaric aciduria type I should be considered a highly cost-effective diagnostic strategy, as demonstrated by the national health systems in Germany and the United Kingdom.

• #6 Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis | Genetics in Medicine

  https://www.nature.com/articles/s41436-020-00971-4

  In contrast, postsymptomatic treatment is not thought to improve the neurological outcome since striatal damage cannot be reversed. […] The aim of this meta-analysis of worldwide NBS studies is to evaluate the benefit of NBS programs for individuals with GA1 and to elucidate whether adherence to recommended therapies positively affects the neurologic outcome. […] Patients not following MT guideline recommendations showed a trend for increased relative risk (log risk ratio) for insidious onset MD compared with patients with recommended dietary treatment. […] Patients with delayed ET had an increased RR (log risk ratio) for acute onset MD compared with patients treated according to recommended ET. […] Quality of therapy becomes the major predictor of neurological outcome in a screened population of GA1.

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