Chain deficiencies. Medical search. Frequent questions

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). (medlineplus.gov)
Signs and symptoms of MCAD deficiency typically appear during infancy or early childhood and can include vomiting, lack of energy (lethargy), and low blood glucose (hypoglycemia). (medlineplus.gov)
People with MCAD deficiency are at risk of serious complications such as seizures, breathing difficulties, liver problems, brain damage, coma, and sudden death. (medlineplus.gov)
Problems related to MCAD deficiency can be triggered by periods of fasting or by illnesses such as viral infections. (medlineplus.gov)
In the United States, the estimated incidence of MCAD deficiency is 1 in 17,000 people. (medlineplus.gov)
Mutations in the ACADM gene cause MCAD deficiency. (medlineplus.gov)
Mutations in the ACADM gene lead to a shortage (deficiency) of the MCAD enzyme within cells. (medlineplus.gov)
This abnormal buildup causes the other signs and symptoms of MCAD deficiency. (medlineplus.gov)
Medium-chain fatty acids accumulating in MCAD deficiency elicit lipid and protein oxidative damage and decrease non-enzymatic antioxidant defenses in rat brain. (medscape.com)
Medium-chain acyl-CoA dehydrogenase deficiency (MCAD) is an autosomal recessively inherited disorder of ß-oxidation of fatty acids. (medicover-genetics.com)
MCAD deficiency is usually detected as part of newborn screening by tandem mass spectrometry. (medicover-genetics.com)
MCAD deficiency is caused by pathogenic variants in the medium-chain acyl-CoA dehydrogenase gene ( ACADM ). (medicover-genetics.com)
The most common causative variant, leading to amino acid substitution Lys329Glu, is detectable in approximately 90% of alleles from patients with MCAD deficiency. (medicover-genetics.com)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is one of the most common fatty acid ß-oxidation disorders. (statpearls.com)
This activity reviews the evaluation and treatment of MCAD deficiency and highlights the role of the interprofessional team in the care of patients with this condition. (statpearls.com)
Identify common presenting symptoms of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. (statpearls.com)
Summarize the importance of communication and coordination amongst the interprofessional team to enhance the care of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. (statpearls.com)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (MCADD or MCAD deficiency) is one of the most common mitochondrial fatty acid β-oxidation disorders and is typically caused by a mutation in the ACADM gene. (statpearls.com)
[1] The MCAD enzyme converts medium-chain fatty acyl-CoA into short-chain fatty acyl-CoA and acetyl CoA to provide the body with energy via ketones during times of fasting. (statpearls.com)
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is an autosomal recessive disorder that is primarily caused by a homozygous mutation of 985A→G in the ACADM gene in roughly 80% of clinically symptomatic patients. (statpearls.com)
Other gene mutations result in MCAD deficiency, but nearly 18% of affected patients will carry at least one allele with 985A→G mutation. (statpearls.com)
The information in this resource will help you understand more about Medium-Chain Acyl-CoA Dehydrogenase (MCAD) deficiency. (nsu.govt.nz)
In 9 patients with MCAD deficiency, Matsubara et al. (coriell.org)
For 60 years, newborn screening has tested for phenylketonuria, congenital hypothyroidism , congenital adrenal hyperplasia, sickle cell disease , cystic fibrosis and medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency. (medscape.com)

Branched-chain keto acid dehydrogenase kinase deficiency (BCKDK deficiency) is a disease resulting from mutations of the BCKDK gene. (wikipedia.org)
This gene provides instructions for making an enzyme called medium-chain acyl-CoA dehydrogenase, which is required to break down (metabolize) a group of fats called medium-chain fatty acids. (medlineplus.gov)
The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome. (medlineplus.gov)
Dezateux C. Newborn screening for medium chain acyl-CoA dehydrogenase deficiency: evaluating the effects on outcome. (medlineplus.gov)
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. (medlineplus.gov)
Medium-chain acyl-CoA dehydrogenase deficiency in children with non- ketotic hypoglycemia and low carnitine levels. (medscape.com)
Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency. (medscape.com)
Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies. (medscape.com)
Medium-chain acyl-CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications. (medscape.com)
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. (medscape.com)
Medium-chain acyl-coA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening. (medscape.com)
Abnormal screening in a healthy infant of a mother with undiagnosed medium-chain acyl-coA dehydrogenase deficiency. (medscape.com)
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency. (medscape.com)
Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations. (medscape.com)
Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) is 1 of 3 enzymatic activities that make up the trifunctional protein of the inner mitochondrial membrane. (medscape.com)
Schematic demonstrating mitochondrial fatty acid beta-oxidation and effects of long-chain acyl CoA dehydrogenase deficiency (LCHAD) deficiency. (medscape.com)
Very-Long-Chain Acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder caused by mutations in the ACADVL gene. (myriad.com)
All three types of VLCAD deficiency are caused by an error in the production of an enzyme called very-long-chain acyl-coenzyme A dehydrogenase. (myriad.com)
What Is the Prognosis for an Individual with Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency? (myriad.com)
[2] During these periods of fasting, gluconeogenesis is utilized via medium-chain acyl-CoA dehydrogenase to maintain blood glucose levels via the production of ketone bodies as acetyl-CoA accumulates. (statpearls.com)
The frequency of medium-chain acyl-CoA dehydrogenase deficiency can vary, with different studies publishing frequencies based on location. (statpearls.com)
Schiff M, Mohsen AW, Karunanidhi A, McCracken E, Yeasted R, Vockley J. Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. (medscape.com)
Scalais E, Bottu J, Wanders RJ, Ferdinandusse S, Waterham HR, De Meirleir L. Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis. (medscape.com)
Clinical, biochemical, and morphologic investigations of a case of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (medscape.com)
Peripheral sensory-motor polyneuropathy, pigmentary retinopathy, and fatal cardiomyopathy in long-chain 3-hydroxy-acyl-CoA dehydrogenase deficiency. (medscape.com)
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. (medscape.com)
Acute dilated cardiomyopathy in a patient with deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase. (medscape.com)
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. (medscape.com)
Gillingham MB, Purnell JQ, Jordan J, Stadler D, Haqq AM, Harding CO. Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. (medscape.com)
Gillingham MB, Scott B, Elliott D, Harding CO. Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency. (medscape.com)
IJlst L, Wanders RJ, Ushikubo S, Kamijo T, Hashimoto T. Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein. (medscape.com)
Pigmentary retinopathy in long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency. (medscape.com)
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. (medscape.com)
MCT oil-based diet reverses hypertrophic cardiomyopathy in a patient with very long chain acyl-coA dehydrogenase deficiency. (medscape.com)
Long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation. (perkinelmer.com)
LCHAD is one of two enzymes that carry out the third step (of 4) in the β-oxidation of fatty acids - the other enzyme being short-chain hydroxyacyl-CoA dehydrogenase (SCHAD), which acts on shorter-chain substrates. (perkinelmer.com)
Short-chain hydroxyacyl CoA dehydrogenase deficiency is an ill-defined, severe pediatric disorder of mitochondrial fatty acid beta-oxidation of short-chain hydroxyacyl CoAs. (ox.ac.uk)
Long-chain hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency and trifunctional protein (TFP) deficiency are caused by impairment of mitochondrial TFP. (nih.gov)
TFP has three enzymatic activities - long-chain enoyl-CoA hydratase, long-chain 3-hydroxyacyl-CoA dehydrogenase, and long-chain 3-ketoacyl-CoA thiolase. (nih.gov)
In individuals with LCHAD deficiency, there is isolated deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase, while deficiency of all three enzymes occurs in individuals with TFP deficiency. (nih.gov)
Isolated deficiency of long-chain 3-hydroxyl-CoA dehydrogenase (LCHAD) is an autosomal recessive disorder characterized by early-onset cardiomyopathy, hypoglycemia, neuropathy, and pigmentary retinopathy, and sudden death (IJlst et al. (nih.gov)
Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is a condition in which the body is unable to break down certain fats. (babysfirsttest.org)
Short-chain acyl-CoA dehydrogenase deficiency (SCAD) is estimated to affect one in 40,000 to 100,000 newborns. (babysfirsttest.org)
If your baby's newborn screening result for short-chain acyl-CoA dehydrogenase deficiency (SCAD) was out of the normal range, your baby's doctor or the state screening program will contact you to arrange for your child to have additional testing. (babysfirsttest.org)
Each child with short-chain acyl-CoA dehydrogenase deficiency (SCAD) has a different experience. (babysfirsttest.org)
Some children with short chain acyl-CoA dehydrogenase deficiency (SCAD) take prescription L-carnitine supplements. (babysfirsttest.org)
Children who are treated early for short-chain acyl-CoA dehydrogenase deficiency (SCAD) can have healthy growth and development. (babysfirsttest.org)
People with medium chain acyl-CoA dehydrogenase deficiency (MCADD) cannot burn fat for energy. (cdc.gov)
The new diseases are homocystinuria, maple syrup urine disease, tyrosinemia type 1, isovaleric acidemia, glutaric aciduria type I, long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, and carnitine deficiency. (medscape.com)
A brief review considered selected genetic variants and associated diseases such as red blood cell traits and predisposure to acute hemolytic anemia for persons with glucose-6-dehydrogenase deficiency, the occurrence of sickle cell anemia in individuals having a specific change in the amino acid structure of the peptide chains of hemoglobin, and the occurrence of thalassemia major due to a genetic defect in the rate of hemoglobin synthesis. (cdc.gov)

Carefully monitor adequate carnitine dose in primary and secondary carnitine deficiencies by evaluating plasma carnitine levels during follow-up visits. (medscape.com)
Carefully review diet compliance in secondary carnitine deficiency, considering avoidance of fasting, intake of fat-restricted, high-carbohydrate diet, and other dietary supplements that may be needed, such as riboflavin or glycine. (medscape.com)
Admit patients with carnitine deficiency for medical management of acute metabolic decompensation. (medscape.com)
Provide intravenous (IV) carnitine if the patient is known to have carnitine deficiency and a defect affecting the oxidation of long chain fatty acids has been excluded. (medscape.com)
Medications include carnitine for primary and secondary carnitine deficiency, as well as other cofactors that may be needed for different conditions associated with secondary carnitine deficiency (eg, riboflavin, coenzyme Q, biotin, hydroxocobalamin, betaine, glycine). (medscape.com)
Avoid exercise and dehydration with warm temperatures because attacks of rhabdomyolysis may occur with certain conditions that cause secondary carnitine deficiency. (medscape.com)
Patients with primary carnitine deficiency have excellent prognosis with oral carnitine supplementation. (medscape.com)
Prognosis of secondary carnitine deficiency depends on the nature of the disorder. (medscape.com)
Translocase deficiency and the infantile form of carnitine palmitoyltransferase II (CPT-II) deficiency have very poor prognosis regardless of treatment. (medscape.com)
Other metabolic disorders that cause secondary carnitine deficiency, such as organic acidemias, require lifelong diet modification and nutritional supplements. (medscape.com)
Family members should receive education once the work-up initiated after newborn screening results suggests primary carnitine deficiency in the newborn or in the mother. (medscape.com)
1996). Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. (cincinnatichildrens.org)
2008). Carnitine-palmitoyltransferase 2 deficiency: novel mutations and relevance of newborn screening. (cincinnatichildrens.org)
2014) Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. (cincinnatichildrens.org)
Carnitine deficiency results from inadequate intake of or inability to metabolize the amino acid carnitine. (msdmanuals.com)
The amino acid carnitine is required for the transport of long-chain fatty acyl coenzyme A (CoA) esters into myocyte mitochondria, where they are oxidized for energy. (msdmanuals.com)
Symptoms of carnitine deficiency and the age at which symptoms appear depend on the cause. (msdmanuals.com)
In neonates, carnitine palmitoyltransferase deficiency is diagnosed using mass spectrometry to screen blood. (msdmanuals.com)
Carnitine deficiency due to inadequate dietary intake, increased requirements, excess losses, decreased synthesis, or (sometimes) enzyme deficiencies can be treated by giving L-carnitine 25 mg/kg orally every 6 hours. (msdmanuals.com)

For individuals with LCHAD deficiency, it is imperative that the lethargic patient receive parenteral dextrose to avoid hypoglycemia during evaluation. (perkinelmer.com)
Individuals with TFP deficiency can present with a severe-to-mild phenotype, while individuals with LCHAD deficiency typically present with a severe-to-intermediate phenotype. (nih.gov)

Some patients who are deficient in all 3 enzymatic activities of the protein have been described, although most have an isolated LCHAD deficiency, which results in the inability to metabolize long-chain fatty acids. (medscape.com)

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. (orpha.net)
FXI deficiency can result from mutations that impair either the synthesis of the FXI molecule or the secretion of the FXI molecule from the producing cell. (medscape.com)

The incidence of isolated LCHAD activity deficiency and trifunctional protein deficiency is unknown in the United States. (medscape.com)
VLCAD deficiency has an estimated incidence of 1 in 30,000 to 1 in 100,000 worldwide. (myriad.com)

As not much is known about the prevalence and predictors of nutritional deficiencies among vegans in the Czech Republic, we evaluated whether supplement use and duration of adherence to the vegan diet are associated with the risk of cobalamin and iron deficiencies. (mdpi.com)
Prevalence, clinical characteristics and treatment outcome of factor X deficiency in a consecutive cohort of primary light-chain amyloidosis. (bvsalud.org)
The prevalence of FX deficiency increased with the Mayo 2004 stage. (bvsalud.org)

This enzyme complex metabolizes long-chain fatty acids, and LCHAD activity is specific for compounds of C12-C16 chain length. (medscape.com)
C , has been identified in the mutant alleles of LCHAD deficiency. (medscape.com)
LCHAD deficiency is a severe fatty acid oxidation disorder that is fatal if untreated. (medscape.com)
[ 2 ] Infants with LCHAD deficiency, which is inherited as an autosomal recessive trait, present in infancy with acute hypoketotic hypoglycemia . (medscape.com)
[ 6 ] in patients with LCHAD deficiency. (medscape.com)
Another study confirmed that disturbance of mitochondrial functions caused by oxidative stress from the accumulating fatty acids is involved in the pathophysiology of LCHAD deficiency. (medscape.com)
This pathomechanism may play a role in chronic and neurologic symptoms of LCHAD deficiency. (medscape.com)
Patients with LCHAD deficiency may develop a profound CNS deficiency of docosahexanoic acid ethyl ester (DHA), 22:6n-3. (medscape.com)
Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency. (medscape.com)
LCHAD deficiency occurs as an isolated defect (described here) or together with deficiency of the other 2 enzymes in mitochondrial trifunctional protein deficiency. (perkinelmer.com)
LCHAD deficiency impairs oxidation of dietary and endogenous fatty acids of long-chain length (16 carbons and longer). (perkinelmer.com)
LCHAD deficiency can present clinically from day one to 3 years of age. (perkinelmer.com)
One group of LCHAD deficiency patients presents with symptoms of cardiomyopathy, which may lead to death. (perkinelmer.com)
A complication of pregnancy, HELLP Syndrome (hemolysis, elevated liver enzymes, and low platelets), has been described in women carrying a fetus affected with LCHAD deficiency. (perkinelmer.com)
Signs and symptoms of LCHAD deficiency typically appear during infancy or early childhood. (nih.gov)

Newborn screening using tandem mass spectrometry of a dried blood spot identifies elevated levels of several long chain hydroxyacylcarnitines (C16-OH, C16:1-OH, C18-OH, C18:1-OH and C16-OH/C16 is also found to be an informative ratio). (perkinelmer.com)

CPT II deficiency is caused by pathogenic variants in the CPT2 gene, and this condition is inherited in an autosomal recessive manner. (cincinnatichildrens.org)
Factor XI (FXI) deficiency is a rare autosomal disorder that may be associated with bleeding. (medscape.com)

The etiology of the severe peripheral neuropathy of trifunctional protein deficiency may result from the unique metabolite, 3-keto-acyl-CoA, after conversion to a methylketone via spontaneous decarboxylation. (medscape.com)

Medium-chain triglyceride supplementation bypasses the metabolic block and provides safe calories. (perkinelmer.com)
Some patients require supplementation with medium-chain triglycerides and essential fatty acids (eg, linoleic acid, linolenic acid). (msdmanuals.com)

Thus, the clinical features may result from either toxicity due to long-chain acyl-CoA esters that cause cardiomyopathy and cardiac arrhythmias or from a block in long-chain fatty acid oxidation that leads to an inability to synthesize ketone bodies and/or adenosine triphosphate from long-chain fatty acids. (medscape.com)
Our studies showed that ACBD5 deficiency leads to accumulation of very long-chain fatty acids (VLCFAs) due to impaired peroxisomal β-oxidation. (bmj.com)
Carriers of fatty-acid oxidation defects, including VLCAD deficiency, do not typically show symptoms of the disease. (myriad.com)
A woman whose pregnancy may be affected by a fatty-acid oxidation defect, such as VLCAD deficiency, should speak with her physician for recommendations and may benefit from consultation with a high-risk physician. (myriad.com)
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. (medscape.com)
Steady-state kinetic constants for HADH 1 and HADH 2 suggest that type 1 is the major enzyme involved in mitochondrial beta-oxidation of short-chain hydroxyacyl-CoAs. (ox.ac.uk)
CPT II deficiency is a disorder of long-chain fatty acid oxidation which may result in either of three distinct presentations based upon the affected individual's age and body systems affected. (cincinnatichildrens.org)
Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening. (cincinnatichildrens.org)
The analysis of individual plasma or serum fatty acids is important in the recognition of essential fatty acid deficiency (Siguel E. 1998) and in the differential diagnosis of inborn errors of metabolism, such as mitochondrial fatty acid oxidation disorders (Costa, et al. (cdc.gov)

Disease severity depends on the specific CYP21A2 mutation and degree of enzyme deficiency. (merckmanuals.com)

Severe combined immune deficiency (SCID) is a life-threatening primary immunodeficiency (PI), with a combined absence of T cell and B cell function. (primaryimmune.org)
In addition, one individual was reported with late-onset adenosine deaminase (ADA) deficiency (ADA-SCID) who had a normal newborn screening test early on. (primaryimmune.org)
Beyond this basic grouping, SCID may be categorized according to phenotypic lymphocyte profiles that include both B-cell status (B + or B - ) and NK-cell status (NK + or NK - ) in addition to T-cell status (T - , because there is always a T-cell deficiency in SCID). (medscape.com)

Patients with BCKDK deficiency have low levels of branched chain amino acids (BCAA) in their organism due to accelerated breakdown of these essential amino acids. (wikipedia.org)
Here evidence implicating omega-3 (n-3) fatty acid deficiency in the pathoaetiology of CHD and MDD is reviewed, and the hypothesis that n-3 fatty acid deficiency is a preventable risk factor for CHD comorbidity in MDD patients is evaluated. (hindawi.com)
95% of patients with CPT II deficiency. (cincinnatichildrens.org)
Fifty-five patients with FX deficiency received retesting of FX activity after anti- plasma cell therapy . (bvsalud.org)

In the past, the severe heart problems in early-onset VLCAD deficiency often result in early demise. (myriad.com)
Vitamin D deficiency may be linked to more severe cases of COVID-19, two studies based on data from more than 20 countries found. (insider.com)
The information in these resources will help you understand Severe Combined Immune Deficiency and answer some of your questions. (nsu.govt.nz)
[ 1 ] This disorder was found in both sexes and was understood to be inherited but was identified as being a less severe abnormality than that observed with hemophilia A and B. Hence, older terms for this disorder included Rosenthal syndrome, PTA deficiency, and hemophilia C. (medscape.com)

Overall, this study reveals the impact of cln5 -deficiency on gene expression in D. discoideum , provides insight on the genes and proteins that play a role in regulating Cln5-dependent processes, and sheds light on the molecular mechanisms underlying CLN5 disease. (frontiersin.org)
Because MCKAT deficiency is so rare, we do not currently understand or know what gene causes it. (hrsa.gov)
We review such studies reporting decreased activity of mitochondrial electron transport chain (ETC) complexes and reduced gene expression of mitochondrial genes, in particular genes of respiratory chain complexes, in individuals with autism. (nih.gov)

Two new studies linked vitamin D deficiency with coronavirus risks, suggesting that not having enough of the nutrient could mean people are more likely to experience serious complications if they are infected. (insider.com)
They found a strong correlation between vitamin D deficiency and a complication known as a cytokine storm, which occurs when the immune system goes into overdrive, and a correlation between vitamin D deficiency and mortality rates. (insider.com)
Vitamin D Deficiency Treatment Market will generate new g. (pharmiweb.com)
Future Market Insights (FMI) presents its new, comprehensive study on the global Vitamin D Deficiency Treatment market spanning from 2019 to 2029. (pharmiweb.com)
This is sure to impact the growth of the Vitamin D Deficiency Treatment market through the pandemic period. (pharmiweb.com)
FMI's report includes a dedicated section expounding both the short-term and long-term impact of the pandemic on the Vitamin D Deficiency Treatment market. (pharmiweb.com)
The study bestows valuable insights into the competitive landscape of the global Vitamin D Deficiency Treatment market, by studying numerous players, their growth strategies, and key developments. (pharmiweb.com)
What will be the key driving factor propelling the demand for Vitamin D Deficiency Treatment during the forecast period? (pharmiweb.com)
How current socio-economic trends will impact the Vitamin D Deficiency Treatment market? (pharmiweb.com)
What are the growth strategies implemented by prominent players in the Vitamin D Deficiency Treatment market to maintain their foothold in the competitive landscape? (pharmiweb.com)

Individuals with late-onset VLCAD deficiency typically experience mild symptoms beginning in adolescence or adulthood. (myriad.com)
To evaluate the hypothesis that n-3 fatty acid deficiency is a risk factor for CHD morbidity and mortality in MDD, it is important to consider that the age at onset for unipolar and bipolar depression peaks in young adulthood (15-19 years) [ 24 , 25 ], whereas CHD mortality peaks substantially later (75-84 years) [ 26 ]. (hindawi.com)

Accordingly, ACBD5 deficiency is a novel single peroxisomal enzyme deficiency caused by impaired VLCFA metabolism, leading to retinal dystrophy and white matter disease. (bmj.com)

Factor X (FX) deficiency is prevalent in light -chain (AL) amyloidosis but its clinical significance was not investigated deeply. (bvsalud.org)
Although iron deficiency is the most common nutritional deficiency ( 3 ), the clinical relevance of iron deficiency on the use of A1C as a screening test for diabetes has not been studied. (diabetesjournals.org)

This form of VLCAD deficiency often appears in early childhood and does not typically involve the heart. (myriad.com)
Individuals with the childhood-onset form of VLCAD deficiency typically have an enlarged liver and episodes of low blood sugar. (myriad.com)
Late-onset VLCAD deficiency does not typically lead to heart failure, low blood sugar, or metabolic crises. (myriad.com)
With early detection and proper treatment, heart issues typically associated with this form of VLCAD deficiency can be avoided. (myriad.com)
unlike the soft tissue bleeds and hemarthroses that characterize hemophilia A and B, abnormal bleeding in FXI deficiency typically involves mucosal tissues, which are rich in fibrinolytic activity (eg, the oral and nasal cavities and urinary tract). (medscape.com)

A rapidly emerging body of evidence suggests that membrane omega-3 (n-3) fatty acid deficiency is a preventable risk factor for both CHD [ 18 ] and MDD [ 19 ]. (hindawi.com)
Although this evidence was obtained from studies conducted largely in parallel in the fields of cardiology and psychiatry, the potential contribution of n-3 fatty acid deficiency to increased CHD morbidity and mortality in MDD has been postulated previously [ 22 , 23 ]. (hindawi.com)

In addition, a buildup of very-long-chain fatty acids in the body can damage the heart, liver, and muscles, causing additional symptoms of the disease. (myriad.com)
Infants with the severest form of VLCAD deficiency develop symptoms within the first few months of life. (myriad.com)
The buildup of medium chain fatty acids leads to the signs and symptoms of the condition. (hrsa.gov)

BCKDK deficiency: A treatable neurodevelopmental disease amenable to newborn screening" (PDF). (wikipedia.org)
Previously, a genetic ACBD5 deficiency was identified in three siblings with retinal dystrophy and white matter disease. (bmj.com)
FX deficiency is associated with a heavier disease burden and poorer survival in primary AL amyloidosis . (bvsalud.org)
Genetic traits associated with lung diseases include increased aryl- hydrocarbon-hydrolase activity associated with bronchogenic carcinoma, and alpha-1-antitrypsin deficiency associated with obstructive pulmonary disease, particularly emphysema. (cdc.gov)
No significant deficiencies in environmental health practices were identified, and no meal servings were associated with disease. (cdc.gov)
Lewy body (ies) (disease) (G31.8) · multiple sclerosis (G35) · neurosyphilis (A52.1) · niacin deficiency [pellagra] (E52) · polyarteritis nodosa (M30.0) · systemic lupus erythematosus (M32. (who.int)

Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study. (medscape.com)
Newborn screening for MCKAT deficiency is done using a small amount of blood collected from your baby's heel. (hrsa.gov)

In this study, we used comparative transcriptomics to identify differentially expressed genes underlying cln5 -deficiency phenotypes during growth and the early stages of multicellular development. (frontiersin.org)
Human immunoglobulin C(mu) and C(delta) heavy chain genes (constant regions). (lu.se)

The other 2 activities of the protein are 2-enoyl coenzyme A (CoA) hydratase (LCEH) and long-chain 3-ketoacyl CoA thiolase (LCKT). (medscape.com)
It is a 160,000-d protein composed of a disulfide-linked dimer with identical polypeptide chains. (medscape.com)

Hypotonia and cardiomyopathy are also usually present, reflecting the underlying energy deficiency. (medscape.com)

Quality of care" deficiencies were outcome and process measures directly related to resident care, which the federal survey designated as resident assessment, quality of care, nursing services, dietary services, physician services, rehabilitative services, dental services, pharmacy services, and infection control. (aphapublications.org)

Role of short-chain hydroxyacyl CoA dehydrogenases in SCHAD deficiency. (ox.ac.uk)

Individuals with VLCAD deficiency do not have enough of this enzyme and as a result, fats are not converted into energy, leaving an individual with low blood sugar (hypoglycemia) and feelings of weakness or tiredness (lethargy). (myriad.com)

An association between retinopathy and DHA deficiency has been demonstrated. (medscape.com)

In summary, our results demonstrated that serotonin deficiency affects neuroplastic mechanisms following a specific temporal pattern and influences the response to an acute stress. (frontiersin.org)

The deficiency may be generalized (systemic) or may affect mainly muscle (myopathic). (msdmanuals.com)

Anatomy14

Organisms12

Diseases48

Chemicals and Drugs74

Analytical, Diagnostic and Therapeutic Techniques and Equipment37

Phenomena and Processes63

Disciplines and Occupations2

Technology, Industry, Agriculture5

Information Science5

Named Groups2

Health Care10

Geographicals2

MCAD24

Dehydrogenase50

Carnitine19

Individuals with LCHAD deficiency2

Isolated LCHAD deficiency1

Mutations2

Incidence2

Prevalence3

LCHAD15

Tandem mass spectro1

Autosomal2

Trifunctional1

Supplementation2

Oxidation9

Mutation1

SCID3

Patients4

Severe4

Gene3

Vitamin D deficien10

Adulthood2

Enzyme deficiency1

Clinical2

Typically5

Fatty acid2

Symptoms3

Disease6

Newborn Screening2

Genes2

Protein2

Cardiomyopathy1

Dietary1

SCHAD1

Hypoglycemia1

Retinopathy1

Acute1

Systemic1