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Inborn errors of metabolism form a large class of genetic diseases. In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or to the effects of reduced ability to synthesize essential compounds.

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Inborn errors of metabolism are genetic disorders which have a wide range of symptoms. These often start at or soon after birth but may appear first at any time during adulthood. Affected individuals may need to deal with symptoms of the disease throughout their lifetime. Symptoms are often non‐specific and may affect any organ. It can be difficult to diagnose an inborn error of metabolism. However, early detection is important and screening of infants for some disorders, such as phenylketonuria, is routine in several countries. It is recommended that carnitine supplements are prescribed in the diet of individuals with certain inborn errors of metabolism, along with other standard treatments. Carnitine supplements take the form of tablet, oral liquid, paediatric liquid and injection and might be taken with food for ease of administration. Unfortunately, we did not find any good quality trials to include in the review. This does not mean that carnitine is ineffective or should not be used in treating inborn errors of metabolism; however, individuals receiving carnitine should be carefully observed and monitored. Therefore, we recommend that clinicians base their decision to prescribe carnitine on clinical experience together with individual preferences. Future trials should include patient‐reported outcomes using validated and internationally recognised scales. Any adverse events associated with the treatment should be reported. It should be carefully considered whether placebo‐controlled trials in potentially lethal diseases, e.g. carnitine transporter disorder or glutaric aciduria type I, are ethical.

Cochrane Database of Systematic Reviews: Plain Language Summaries [Internet] - John Wiley & Sons, Ltd.

Version: February 15, 2012

Currently in Norway, we screen our newborn for two inherited metabolic disorders: Congenital hypothyroidism (CH) and Phenylketonuria (PKU).

Knowledge Centre for the Health Services at The Norwegian Institute of Public Health (NIPH).

Version: December 2007

Inborn errors of metabolism are a rare group of genetic disorders that can have serious clinical consequences for an affected neonate or young infant. If undiagnosed and untreated, these disorders can cause irreversible mental retardation (ranging from mild to severe), physical disability, neurological damage and even fatality. Early detection (soon after birth) and an accurate diagnosis are very important for achieving a rapid and favourable patient outcome. Although the incidence of each specific metabolic disorder is rare, their collective importance is deemed to be of considerable public health significance.

NIHR Health Technology Assessment programme: Executive Summaries - NIHR Journals Library.

Version: 2004

BACKGROUND: Inborn errors of metabolism (IEMs) have been anecdotally reported in the literature as presenting with features of cerebral palsy (CP) or misdiagnosed as 'atypical CP'. A significant proportion is amenable to treatment either directly targeting the underlying pathophysiology (often with improvement of symptoms) or with the potential to halt disease progression and prevent/minimize further damage.

Database of Abstracts of Reviews of Effects (DARE): Quality-assessed Reviews [Internet] - Centre for Reviews and Dissemination (UK).

Version: 2014

Gaucher disease, a rare disorder, is caused by inherited deficiency of the enzyme glucocerebrosidase. This defect leads to the build‐up of a fatty material called glucocerebroside in various cells in the body. Untreated individuals may suffer from anaemia, a decrease in platelet counts, massive enlargement of the liver and spleen, and damage to the bones. Two different types of treatment are available: the intravenous supplementation of the deficient protein glucocerebrosidase (enzyme replacement therapy), or the oral administration of a drug that slows down the production of the fatty material that it normally breaks down (substrate reduction therapy).

Cochrane Database of Systematic Reviews: Plain Language Summaries [Internet] - John Wiley & Sons, Ltd.

Version: March 27, 2015

Children admitted to hospital often die within 24 hours of admission. Many of these deaths could be prevented if very sick children are identified soon after their arrival in the health facility, and treatment is started immediately. This can be facilitated by rapid triage for all children presenting to hospital to identify those needing immediate emergency care. The Emergency Triage Assessment and Treatment (ETAT) guidelines provide guidance on the most common emergency conditions in children presenting at the health facility. These include but are not limited to airway obstruction and other breathing problems; circulatory impairment or shock; severely altered CNS function (coma or convulsive seizures); and severe dehydration which require urgent appropriate care to prevent death.

World Health Organization.

Version: 2016

These guidelines cover most aspects of nutrition support in adult patients (>18 years) who are either malnourished or are at ‘risk’ of malnutrition. In some cases specific guidance related to patients in specific care settings or with specific diseases has been provided but in general the guidance is applicable to patients whatever their setting (hospital or community) or disease. The guideline therefore includes: information on the prevalence of malnutrition and the benefits of good nutrition; guidance on the appropriate forums for the organisation of nutrition support in all settings; guidance on who should be screened for malnutrition and when, along with the criteria for consideration when assessing patients’ nutritional status; the general indications for nutrition support together with ethical and legal considerations that may arise; guidance on the process and special considerations required to prescribe nutrition support and details information on the important parameters to monitor for patients receiving nutrition support; detailed guidance on the administration of oral, enteral and parenteral nutrition including; the appropriate types of access for enteral and parenteral nutrition and the optimum mode of delivering these; specific guidance on the management of providing nutrition support to patients with dysphagia; issues to consider for patients receiving enteral and parenteral nutrition support in the community; issues arising for patients and their carers.

NICE Clinical Guidelines - National Collaborating Centre for Acute Care (UK).

Version: February 2006

This guideline covers the recognition, referral and diagnosis of autism in children and young people from birth up to 19 years.

NICE Clinical Guidelines - National Collaborating Centre for Women’s and Children’s Health (UK).

Version: September 2011

Urea cycle disorders (UCDs) result from genetic mutations that cause defects in any of the five enzymes of the urea cycle in the liver: carbamoyl phosphate synthetase 1 (CPS1), ornithine transcarbamylase (OTC), argininosuccinate synthetase (ASS), argininosuccinate lyase, and arginase; in the co-factor producer N-acetyl glutamate synthetase; or in the ornithine transporter and citrin. The estimated incidence of UCDs ranges from one in 22,179 births to one in 53,717 births. The most recent estimate of incidence of UCDs for the US is around one in 35,000 births. It is estimated that approximately 11 new cases of UCDs will be diagnosed each year in Canada. The incidence of OTC deficiency (one in 56,500 live births) is higher than other UCDs. Deficiencies in the urea cycle may result in excessive ammonia levels due to impaired metabolism, which can be life-threatening and result in permanent neurological damage if left untreated. Treatment should be initiated as soon as a diagnosis of a UCD is suspected and should proceed simultaneously with the diagnostic evaluation.

Common Drug Review - Canadian Agency for Drugs and Technologies in Health.

Version: April 2017

In the United States, coronary heart disease and cardiovascular disease account for nearly 40% of deaths each year. An individual’s estimated risk for coronary heart disease events, often based on factors incorporated into the Framingham risk score, guides the intensity of risk reduction interventions. We conducted a systematic review of epidemiologic studies to help the U.S. Preventive Services Task Force determine which, if any, of 9 additional risk factors should be considered for incorporation into guidelines for coronary and cardiovascular risk assessment in primary care.

Evidence Syntheses - Agency for Healthcare Research and Quality (US).

Version: October 2009

Acute kidney injury (AKI), previously called acute renal failure, has chiefly been described as a syndrome since World War 2. Traditionally ‘acute renal failure’ was regarded as a less common organ failure, with patients typically requiring dialysis and managed by nephrologists. This view has now been overturned. AKI encompasses a wide spectrum of injury to the kidneys, not just ‘kidney failure’. It is a common problem amongst hospitalised patients, in particular the elderly population whose numbers are increasing as people live longer. Such patients are usually under the care of doctors practicing in specialties other than nephrology. For normal function the kidneys require a competent circulation. Conversely, it is known that renal function is vulnerable to even relative or quite modest hypotension or hypovolaemia. Hence AKI is a feature of many severe illnesses. Although these illnesses may affect many organs, the simple process of monitoring urine output and/or creatinine permits detection of AKI.

NICE Clinical Guidelines - National Clinical Guideline Centre (UK).

Version: August 2013

Dyslipidemias, disorders of lipid metabolism, are important risk factors for coronary heart disease (CHD). Identification of children with dyslipidemias could lead to interventions aimed at decreasing their risk of CHD as adults.

Evidence Syntheses - Agency for Healthcare Research and Quality (US).

Version: July 2007

This guideline has been written within a conceptual framework which places the woman and her baby at the centre of care, appreciating that all postnatal care should be delivered in partnership with the woman and should be individualised to meet the needs of each mother-infant dyad. The guideline aims to identify the essential ‘core care’ which every woman and her baby should receive, as appropriate to their needs, during the first 6–8 weeks after birth, based upon the best evidence available.

NICE Clinical Guidelines - National Collaborating Centre for Primary Care (UK).

Version: July 2006

This guideline covers the management of spasticity and co-existing motor disorders and their early musculoskeletal complications in children and young people (from birth up to their 19th birthday) with non-progressive brain disorders.

NICE Clinical Guidelines - National Collaborating Centre for Women's and Children's Health (UK).

Version: July 2012

We reviewed the evidence for screening newborn babies for galactosaemia in order to prevent or reduce death and illness, to improve clinical outcomes in affected babies and to improve the quality of life in affected older children.

Cochrane Database of Systematic Reviews: Plain Language Summaries [Internet] - John Wiley & Sons, Ltd.

Version: 2018

This clinical guideline concerns the management of hypertensive disorders in pregnancy and their complications from preconception to the postnatal period. For the purpose of this guideline, ‘pregnancy’ includes the antenatal, intrapartum and postpartum (6 weeks after birth) periods. The guideline has been developed with the aim of providing guidance in the following areas: information and advice for women who have chronic hypertension and are pregnant or planning to become pregnant; information and advice for women who are pregnant and at increased risk of developing hypertensive disorders of pregnancy; management of pregnancy with chronic hypertension; management of pregnancy in women with gestational hypertension; management of pregnancy for women with pre-eclampsia before admission to critical care level 2 setting; management of pre-eclampsia and its complications in a critical care setting; information, advice and support for women and healthcare professionals after discharge to primary care following a pregnancy complicated by hypertension; care of the fetus during pregnancy complicated by a hypertensive disorder.

NICE Clinical Guidelines - National Collaborating Centre for Women's and Children's Health (UK).

Version: August 2010

Hereditary kidney cancer syndromes include von Hippel-Lindau disease, hereditary leiomyomatosis and renal cell cancer, Birt-Hogg-Dubé syndrome, and hereditary papillary renal carcinoma. Learn about the genetics, clinical manifestations, and management of these hereditary kidney cancer syndromes in this expert-reviewed summary.

PDQ Cancer Information Summaries [Internet] - National Cancer Institute (US).

Version: January 10, 2018

We reviewed the evidence to determine if newborn population screening for the diagnosis of homocystinuria due to cystathionine beta synthase deficiency leads to clinical improvement compared to later clinical diagnosis and to determine the psychological effects on parents or carers of newborn population screening for homocystinuria. This is an update of a previously published review.

Cochrane Database of Systematic Reviews: Plain Language Summaries [Internet] - John Wiley & Sons, Ltd.

Version: October 1, 2015

We reviewed the evidence about the effectiveness and safety of treating mucopolysaccharidosis type VI by enzyme replacement therapy with galsulfase (a manufactured version of the enzyme arylsulphatase B) compared to other interventions, no intervention or placebo.

Cochrane Database of Systematic Reviews: Plain Language Summaries [Internet] - John Wiley & Sons, Ltd.

Version: March 4, 2016

Familial hypercholesterolaemia is an inherited disorder characterised by a raised blood cholesterol, and premature ischaemic heart disease. Changing diet is an important management option to reduce low‐density lipoprotein cholesterol (the bad cholesterol) levels. Recently, certain lipid‐lowering drugs have shown to be safe and effective for the treatment of children with familial hypercholesterolaemia. However, dietary management remains important either on its own or combined with drug therapy. Several strategies are used to modify diet. This review aimed to compare cholesterol‐lowering dietary interventions either in combination with each other or alone. These interventions included adding omega‐3 fatty acids or plant sterols or plant stanols or soya proteins to diet. Fifteen trials were included in this updated review. The included trials had either a low or unclear risk of bias for most of the domains used for risk assessment. All the trials were short term and the majority were cross‐over in design. For most of the comparisons there was no significant difference in the various intervention strategies when compared to cholesterol‐lowering diet. However, for total cholesterol levels, serum low density lipoprotein (LDL) concentrations, a significant benefit was obtained with plant sterols. However, before drawing any conclusions, methodological problems with pooling results from cross‐over trials should be considered. There is a need for long‐term trials with parallel group design to assess the potential benefits and harms of a cholesterol‐lowering diet.

Cochrane Database of Systematic Reviews: Plain Language Summaries [Internet] - John Wiley & Sons, Ltd.

Version: June 10, 2014

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