Materiały źródłowe

• #1 Glutaric aciduria type 1

  https://www.nhs.uk/conditions/glutaric-aciduria/

  Babies with GA1 are unable to break down the amino acids lysine, hydroxylysine and tryptophan. […] With early diagnosis and the correct treatment, the majority of children with GA1 are able to live normal, healthy lives. However, treatment for GA1 must be continued for life. […] Children diagnosed with GA1 are referred to a specialist metabolic dietitian and given a low-protein diet. This is tailored to reduce the amount of amino acids your baby receives, especially lysine and tryptophan. […] Your dietitian will provide detailed advice and guidance, as your baby still needs some of these foods for healthy growth and development. […] People with GA1 may need to follow a restricted protein diet for the rest of their life to reduce their risk of a metabolic crisis. […] Your child will be prescribed a medication called L-carnitine, which helps to clear some of the excess glutaric acid.

• #2 Glutaric acidemia type I | Newborn Screening

  https://newbornscreening.hrsa.gov/conditions/glutaric-acidemia-type-i

  Glutaric acidemia type I is an inherited (genetic) condition that prevents the body from breaking down certain proteins properly. […] It is important to talk to your health care provider about which treatment(s) are best for your baby. The goal of treatment is to prevent the health problems caused by this condition. […] Treatments may include the following: Diet of special formulas or foods, Riboflavin (vitamin B-2) supplements (in some cases), L-carnitine supplements (in some cases). […] People with glutaric acidemia type I must be very careful during illnesses that cause poor appetite, vomiting, or diarrhea. During these illnesses, people with this condition may need emergency care and intravenous (IV) treatments. […] Children who receive early and ongoing treatment for glutaric acidemia type I can have healthy growth and development.

• #3 Simplified Approach to Glutaric Acidurias: A Mini-Review

  https://www.rarediseasesjournal.com/articles/simplified-approach-to-glutaric-acidurias-a-minireview.html

  Glutaric aciduria type I (GA-I) is an autosomal recessive organic aciduria caused by glutaryl-CoA dehydrogenase (GCDH) deficiency with an estimated overall prevalence of 1 in 100,000 newborns. GA-I is considered to be a neurological disorder and a cerebral organic aciduria. The initial progression of clinical symptoms in cases of GA-I is slow; hence GA-I is frequently left undiagnosed until an acute metabolic crisis occurs. A child suffering from GA-I usually presents with macrocephaly which is found in 75% of GA-I patients during infancy. Clinical presentations with acute encephalopathic crises are seen mostly between 6 and 18 months and induced by febrile illness, fasting, or immunization. The early diagnosis of GA-I is essential, since the metabolic symptoms can be usually prevented by carnitine supplementation and a diet that is low in lysine and tryptophan to reduce glutaric acid production, and also may include supplementation with L-carnitine, riboflavin. GA-I is a good candidate for NBS, and the aim of NBS in GA-I cases is to reduce the risk of irreversible neurological disease following the striatal injury.

• #4 Glutaric aciduria type 1 (GA1)

  https://www2.hse.ie/conditions/heel-prick-screening/conditions/glutaric-aciduria/

  Babies with GA1 benefit from early diagnosis and treatment. […] Your baby will then be put on medicine and a special low-protein diet. This diet is for life.

• #5 Glutaric aciduria type I – Genomics Education Programme

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

  Management is centred on a lysine-restricted diet and carnitine supplementation. […] Treatment is managed by a multi-disciplinary team at specialised metabolic centres. […] 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. […] Treatment monitoring requires regular quantitation of plasma amino acids levels, and should aim to maintain lysine and other essential amino acids in the normal range. Carnitine levels should also be monitored regularly.

• #6 Glutaric Acidemia Type 1 (GA1) | Newborn Screening Ontario

  https://www.newbornscreening.on.ca/en/results/screen-positive-results/disease-information/glutaric-acidemia-type-1-ga1/

  Treatment for GA1 is started as early as possible and is usually life long. […] A team, including a metabolic doctor and a dietitian, cares for babies with GA1. Babies with GA1 have their health and development checked regularly. Regular follow-up tests are used to monitor and adjust treatments. […] If signs of a metabolic crisis are present, urgent medical care is very important.

• #7 Glutaric Acidemia Type 1 | Children’s Hospital Pittsburgh

  https://www.chp.edu/our-services/rare-disease-therapy/conditions-we-treat/glutaric-acidemia-type-1

  If your child has GA-1, we want you to know you’re not alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help. […] You can expect your first visit to take from 4 to 6 hours. Your child will receive a complete assessment from one of the center’s doctors. […] Members of your child’s care team will talk with you about: Likely next steps for your child. GA-1 treatment options. Ways to help your child’s quality of life at home. […] By the end of your visit, you’ll have a GA-1 care plan tailored to your child’s needs. We’ll also schedule a follow-up visit. […] You’ll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit. […] A child with a rare disease like GA-1 affects the whole family. We see each family member as our partner at the CRDT. […] At the CRDT, every child diagnosed with a rare disease receives a tailored treatment plan and family-centered care.

• #8

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

  This information is for parents if their baby is suspected of having GA1 or has been diagnosed with GA1 following their newborn blood spot screening test (heel prick test). It will help you and your healthcare professionals to talk through the next stages of your babys care. […] If your baby does have GA1, the metabolic team will: explain the condition in detail and answer any questions you might have, start your baby on medical treatment and a special diet, which includes: a medicine called L-carnitine, which helps to reduce glutaric acid in the blood, a restricted protein feeding plan, a special feed to use during illnesses (called the emergency regimen), provide you with written information and contact details for the metabolic team, arrange regular follow-up appointments. […] The metabolic team will see you regularly throughout your childs life and your child will remain under their care.

• #9 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. […] The principles of dietary management of GA1 consists of the following: Intake of controlled amounts of foods naturally high in lysine, individually calculated by a dietitian, Lifelong oral supplementation of l-carnitine, an amino acid essential, Consumption of lysine free, tryptophan reduced and arginine enriched protein substitutes as medically prescribed to ensure requirements for essential amino acids, minerals, vitamins and trace elements are met. […] 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.

• #10 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 managed with the following special diet and medication: A protein-restricted diet, A protein substitute, Carnitine medication. […] In GA1, it is important that enough protein is given for growth…but not too much as toxic chemicals will be made. […] In babies, a restricted amount of protein is given from breast milk or measured amounts of infant formula. The amount given will be monitored regularly by your specialist metabolic dietitian. […] Protein substitute is essential for metabolic control. It will help to meet your baby’s protein, energy, vitamin and mineral requirements. It is available on prescription. […] During any childhood illness, an emergency regimen is given. Illnesses can cause catabolism or protein breakdown. This will lead to a build-up of glutaric acid and cause a metabolic crisis.

• #11

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

  You should contact the metabolic team at the start of any illness to let them know your baby is unwell and that you have started the emergency regimen. […] 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.

• #12

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

  If your baby becomes ill, they might have an episode known as a metabolic crisis (also known as metabolic decompensation). This is caused by a rapid build-up of the harmful substances (glutaric acid and 3-hydroxyglutaric acid) in their body which can make them severely unwell. […] To help prevent this from happening, you will be taught to give an emergency regimen, which involves specialist feeds and frequent feeding. If your baby becomes very unwell, they might need to be admitted to hospital. […] The metabolic team will teach you how to look after your child during illness. […] 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.

• #13 Glutaric aciduria type 1

  https://www.nhs.uk/conditions/glutaric-aciduria/

  If your baby develops an infection, such as a high temperature or cold, their risk of having a metabolic crisis increases. […] Your dietitian may provide you with a feeding tube (nasogastric tube) and show you how to use it safely. This can be useful in an emergency if your baby isn’t feeding well while they are ill. […] You should also take your baby to hospital if they develop symptoms of a metabolic crisis, such as irritability, loss of energy or breathing difficulties.

• #14 Your baby’s screening result – Glutaric aciduria type 1 (GA1) is suspected – Public Health Wales

  https://phw.nhs.wales/services-and-teams/screening/newborn-bloodspot-screening-wales/information-resources/leaflets/information-for-parents/your-babys-screening-result-glutaric-aciduria-type-1-ga1-is-suspected/

  If you are concerned about poor feeding or that your baby is unwell, contact your specialist metabolic team. […] An ill baby might not feed well, be sleepy, vomit, develop breathing difficulties and become cold. […] If you are worried that your baby is ill, contact a member of your specialist metabolic team.

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

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

  During illness, you should: Stop all protein in food and drink, Start the emergency regimen. This is made up of protein substitute and glucose polymer, Use carnitine medication as prescribed, Phone your metabolic team. […] Always take full amounts of emergency feeds as prescribed. If symptoms continue and/or you are worried, go immediately to the hospital. Regularly update your metabolic team. […] It is imperative that emergency feeds are started promptly and there are no delays in management. […] GA 1 is monitored using: Frequent blood tests to check amino acid and nutrient levels, Height and weight, Developmental checks. […] Diet and medications are adjusted according to age, weight and blood chemical levels. […] With good management, severe movement problems can be prevented in the majority of children.

• #16 Perioperative Management of a Patient With Glutaric Aciduria | Hakim | Journal of Medical Cases

  https://www.journalmc.org/index.php/JMC/article/view/2096/1539

  Glutaric aciduria type-1 (GA-1) is an autosomal recessive metabolic disorder due to the deficiency of the enzyme, glutaryl-CoA dehydrogenase. […] Due to the progressive neurologic effects with spasticity and orthopedic deformities, surgical and anesthetic cares are frequently required. […] The progressive neurologic effects of the disorder frequently lead to spasticity and orthopedic deformities requiring surgical and anesthetic care. […] Given the significant comorbid sequelae of GA-1, there are several specific perioperative implications which may significantly impact the risk for perioperative morbidity and mortality. […] Perioperative care focuses on the maintenance of normal homeostasis with provision of fluid and glucose during fasting to prevent catabolism and the release of endogenous amino acids.

• #17 Perioperative Management of a Patient With Glutaric Aciduria | Hakim | Journal of Medical Cases

  https://www.journalmc.org/index.php/JMC/article/view/2096/1539

  During NPO times, given the potential impact of catabolism and the risks of hypoglycemia, intravenous fluids and dextrose should be provided to meet maintenance needs. […] Perioperatively, routine medications including anticonvulsant agents, carnitine, and riboflavin should be continued. […] Precautions to prevent such problems may include the preoperative administration of H2-antagonists blockers and the use of cricoid pressure with modified rapid-sequence induction. […] Given the associated involvement of the CNS, the use of succinylcholine is controversial because of possible hyperkalemia. […] Issues related to poor upper airway control and defective control of ventilation with the associated CNS damage may lead to perioperative respiratory insufficiency. […] Postoperative monitoring of respiratory function is suggested especially when opioids are required for postoperative analgesia. […] The preoperative assessment of end-organ impairment by the primary disease process and close postoperative monitoring are mandatory for the effective perioperative care of these patients.

• #18

  https://scholars.duke.edu/individual/pub809920

  The management of cesarean delivery for a parturient with placenta previa at 36 weeks’ gestation and glutaric aciduria type 1 is presented. The management goal was to prevent encephalopathic crisis by ensuring adequate caloric intake with dextrose infusion and to provide carnitine supplementation and adequate anesthesia.

• #19 Azthena logo with the word Azthena

  https://www.news-medical.net/news/20201014/Study-summarizes-treatment-and-management-of-glutaric-acidemia-type-1.aspx

  A new study summarizes over 30 years of clinical experience in the treatment and management of glutaric acidemia type 1 (GA1), a rare and potentially devastating metabolic disorder caused by variants in the GCDH gene. […] It establishes a safe and highly effective standard-of-care for the treatment of GA1, and should serve as a rich and valuable resource for dieticians, physicians, and GA1 families throughout the world for years to come. […] Today, with the benefit of early diagnosis, dietary therapy, and an effective hospital protocol, only 7% of children born with GA1 suffer brain injury. Specifically, state newborn screening coupled with strict dietary management reduces the risk of brain injury 14-fold, and uninjured children with GA1 have normal growth, motor development, and cognitive function.

• #20 What are the information needs of parents caring for a child with Glutaric aciduria type 1? | BMC Pediatrics | Full Text

  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-019-1742-x

  Parents play a vital role in managing metabolic conditions to achieve the health outcomes that early detection through NBS offers. […] The study highlights the importance of addressing parents initial and ongoing informational needs so they can fulfil their role and protect their child from metabolic harm. […] Parents needed to understand the condition sufficiently to be able to manage it on a day to day basis and to protect their child from metabolic harm. […] Parents managed the condition on a daily basis by ensuring that the strict dietary regime was adhered to. […] Parents also identified the importance of having that scientific information translated into practically focused, written information that would help them manage the condition on a daily basis. […] As partners in care, parents and clinicians needed to develop a shared understanding of medical management and a common language to discuss it.

• #21 What are the information needs of parents caring for a child with Glutaric aciduria type 1? | BMC Pediatrics | Full Text

  https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887-019-1742-x

  The parents also wanted to be actively involved in monitoring their child’s metabolic status and to receive details of the test results on which dietary management decisions were based. […] Insights into their informational needs are valuable for clinicians to inform the ongoing care and support they provide for parents to enable them to fulfil their role and protect their child from metabolic harm.

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

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

  Helpful hints: Always ensure you have a good supply of your dietary products and medicines and that they are in date. […] Your dietary products and medications are prescribed by your GP. These are obtained via a pharmacy or home delivery. […] Always ensure you have your emergency feed products and a written emergency plan. […] Medications to control fever should be given as normally recommended – always keep supplies available.

• #23 Newborn screening information for glutaric acidemia type I | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/glutaric-acidemia-type-i

  If glutaric acidemia, type 1 (GA-1) is treated early and throughout life, your baby can have healthy growth and development. […] It is important to screen for and treat GA-1 early. If GA-1 is untreated, it can lead to seizures, coma, or permanent brain damage. […] Work with your baby’s doctor to determine the next steps for your baby’s care. Your baby’s doctor may help you coordinate care with a physician who specializes in metabolism, a dietician who can help plan your child’s specialized diet, or other medical resources in your community. […] Because GA-1 is a genetic condition, you may want to talk with a genetics specialist. A genetic counselor or geneticist can help you understand the causes of the condition, discuss genetic testing for GA-1, and understand what this diagnosis means for other family members and future pregnancies.

• #24 Katie – Glutaric Acidemia, Type 1 – Organic Acidemia Association

  https://oaanews.org/blog/katie_glutaric_acidemia/

  I was diagnosed with Glutaric Aciduria Type 1 when I was 6 years old. […] Once I was diagnosed, I started to watch my protein intake a lot more. […] Staying in the hospital multiple times throughout the year is what helped me decide that I wanted to be a nurse. […] I am now currently a Licensed Practical Nurse and I am currently finishing my RN degree at William Penn University in Oskaloosa, Iowa. […] I just accepted a job as a student nurse on the oncology floor at Cardinal Glennon Childrens Hospital, and I am working with a few of the nurses who took care of me as a child.

• #25 What is glutaric aciduria type 1?

  https://www.medicalnewstoday.com/articles/glutaric-aciduria-type-1

  GA1 is an inherited metabolic disorder. […] The guidelines for managing and treating GA1 involve metabolic maintenance treatment. This consists of working closely with the metabolic team, following a low protein diet, and taking medications to reduce glutaric acid levels. […] A specialist metabolic dietitian will tailor a low protein diet. In particular, this diet will reduce the amounts of amino acids, such as lysine and tryptophan, that a person consumes. […] The medical team will provide detailed instructions for emergency treatment. The emergency regimen varies slightly between children and adults but involves administering a solution rich in glucose or dextrose to provide energy and help limit the buildup of harmful substances in the brain and body. […] Treatment for GA1 involves following a low protein diet and consuming special formulas to ensure sufficient nutritional intake.

• #26 Your baby’s screening result – Glutaric aciduria type 1 (GA1) is suspected – Public Health Wales

  https://phw.nhs.wales/services-and-teams/screening/newborn-bloodspot-screening-wales/information-resources/leaflets/information-for-parents/your-babys-screening-result-glutaric-aciduria-type-1-ga1-is-suspected/

  The result of your babys heel prick screening blood test suggests they might have glutaric aciduria type 1 (GA1). Your baby now needs further tests to check whether he or she has GA1 or not. […] Babies with GA1 benefit significantly from early treatment and can live healthy and active lives. […] GA1 can be treated with a special low-protein diet and dietary supplements. This prevents the build-up of harmful substances. Your baby may also be given medication. […] It is important that babies with GA1 feed regularly and do not go for long periods without eating. They also need to see their specialist metabolic team regularly. […] If GA1 is confirmed, your specialist metabolic team will explain how to give your baby the special low-protein diet (if your baby is breastfed, you can continue breastfeeding)

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