INHERITANCE - Autosomal recessive LABORATORY ABNORMALITIES - Leukotriene C4 synthetase deficiency ▲ Close

Leukotriene C4 synthase deficiency is an extremely rare fatal neurometabolic developmental disorder characterized clinically by muscular hypotonia, psychomotor retardation, failure to thrive, and microcephaly.

Hypocomplementemic urticarial vasculitis (HUV) is a rare form of vasculitis characterized by inflammation of the small blood vessels and low levels of complement proteins in the blood. ... Some cases of HUV respond to therapies commonly used for the treatment of lupus, including low-dose prednisone, hydroxychloroquine , and dapsone .

Isobutyryl-CoA dehydrogenase deficiency is an inborn error of valine metabolism. The prevalence is unknown. Only one symptomatic patient (with anaemia, failure to thrive, dilated cardiomyopathy and plasma carnitine deficiency) has been described so far, but several series of patients have been identified through newborn screening programs relying on detection of increased C(4)-carnitine levels by tandem mass spectrometry. The disorder is caused by mutations in the ACAD8 gene (11q25).

The signs and symptoms may not appear until later in infancy or childhood and can include poor feeding and growth (failure to thrive), a weakened and enlarged heart ( dilated cardiomyopathy ), seizures, and low numbers of red blood cells ( anemia ). Another feature of this disorder may be very low blood levels of carnitine (a natural substance that helps convert certain foods into energy).

Treatment may include the use of L-carnitine (a safe and natural substance that helps the body's cells make energy), frequent meals, and a low-valine diet.

A few children with IBD deficiency have developed features such as a weakened and enlarged heart (dilated cardiomyopathy ), weak muscle tone (hypotonia), and developmental delay. This condition may also cause low numbers of red blood cells (anemia ) and very low blood levels of carnitine, which is a natural substance that helps convert certain foods into energy.

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

HIBCH deficiency is a rare metabolic disease. Early symptoms include poor muscle tone, poor feeding, seizures, and a gradual loss of skills. HIBCH deficiency can cause signs and symptoms similar to another disease, called Leigh syndrome . Diagnosis is aided by blood tests which show high levels of lactic acid, and imaging studies which show changes in the "globi pallidi" structure of the brain. HIBCH deficiency occurs when a person inherits a mutation in both copies of their HIBCH gene. This pattern of inheritance is called "autosomal recessive." The HIBCH gene tells the body how to make an enzyme called 3-hyroxyisobutyryl-CoA hydrolase.

When the levels of this enzymes are too low valine levels increase, particularly in the mitochondria . [ citation needed ] How this produces the clinical picture is not yet clear.

Treatment for this condition typically includes a low-fat diet and avoidance of long periods without food (fasting).

Diagnostic methods SCAD deficiency has been defined as the presence of (1) increased butyrylcarnitine (C4) concentrations in plasma and/or increased ethylmalonic acid (EMA) concentrations in urine under non-stressed conditions (on at least two occasions) and (2) biallelic ACADS mutations or susceptibility variants 511C>T and 625G>A. ... Some symptomatic patients are given riboflavin and follow a low fat/high carbohydrate diet and avoid fasting.

Short-chain acyl-coenzyme A dehydrogenase deficiency Other names ACADS deficiency and SCAD deficiency , [1] Short-chain acyl-coenzyme A dehydrogenase deficiency has an autosomal recessive pattern of inheritance Symptoms Cardiomyopathy , delayed speech [2] Causes Mutations in the ACADS gene [3] Diagnostic method Urine test, Genetic test [4] [5] Treatment Intravenous fluids/ high dextrose concentration [5] Short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD), is an autosomal recessive [6] fatty acid oxidation disorder which affects enzymes required to break down a certain group of fats called short chain fatty acids . [ medical citation needed ] Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 3.1 Differential diagnosis 4 Treatment 5 Epidemiology 6 References 7 Further reading 8 External links Signs and symptoms [ edit ] Short-chain acyl-coenzyme A dehydrogenase deficiency affected infants will have vomiting , low blood sugar , a lack of energy ( lethargy ), poor feeding, and failure to gain weight and grow. ... In some cases, signs and symptoms may not appear until adulthood, when some individuals may develop muscle weakness, while other individuals mild symptoms may never be diagnosed. [2] [5] Genetics [ edit ] Chromosome 12 SCADD is caused genetically by mutations in the ACADS gene, located on chromosome 12q22-qter . [8] Mutations in the ACADS gene lead to inadequate levels of short-chain acyl-CoA dehydrogenase, which is important for breaking down short-chain fatty acids . Low levels of this enzyme halt short-chain fatty acids from being further broken down and processed in the mitochondria , consequently, these short-chain fatty acids are not converted into energy. [5] [3] The disorder is inherited via autosomal recessive . [6] This means the defective gene responsible for the disorder is located on an autosome (chromosome 12 is an autosome), and two copies of the defective gene are needed in order to be born with this disorder.

Her plasma total carnitine level was low-normal, but was esterified to an abnormal degree. ... Turnbull et al. (1984) reported the case of a 53-year-old woman who presented with a lipid-storage myopathy and low concentrations of carnitine in skeletal muscle. ... At least in some children with the severe systemic form of the disorder associated with metabolic acidosis, there is low activity of the enzyme but synthesis of normal-sized enzyme protein and mRNA.

Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive).

The major features of DDD are due to kidney malfunction, and often include proteinuria; hematuria ; reduced amounts of urine; low levels of protein in the blood; and swelling in many areas of the body.

Dense deposit disease, a histological subtype of MPGN (see this term) is an idiopathic chronic progressive kidney disorder distinguished by the presence of intra-membranous dense deposits in addition to immune complex subendothelial deposits in the glomerular capillary walls. This form often has a higher recurrence rate after a kidney transplant and is associated with extra-renal manifestations such as familial drusen (see this term).

The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004). ... She had short neck, restricted cervical movement, and low posterior hairline. Radiographic examination showed C1 anomalies and fusion of C2-3 and C3-4. ... Facial features included flat facies, low anterior and posterior hairlines, hypertelorism, high-arched palate, and low-set ears. ... She had the typical triad of KFS, including very short neck, low occipital hairline, and reduced bilateral neck movements. ... She had midfacial hypoplasia with a low nasal root, a short nasal septum, a long philtrum, a thin upper lip, micrognathia, a low posterior hairline, a short and broad neck, brachydactyly, hypoplastic nails, and pes planus.

Common features may include a short neck, low hairline at the back of the head, and restricted movement of the upper spine.

Congenital condition characterised by fusion of two or more vertebrae in the neck Klippel-Feil syndrome Other names Congenital dystrophia brevicollis, cervical vertebral fusion syndrome Woman with Klippel–Feil syndrome Pronunciation / ˌ k l ɪ . p ə l ˈ f aɪ l / Specialty Paediatrics , orthopaedics Symptoms Cervical spine fusion, scoliosis , spina bifida , heart defect , respiratory problems, other syndromic features Usual onset Congenital Causes Genetic mutations Risk factors Family history Prognosis Shorter life expectancy in some cases Frequency 1 in 40,000 to 42,000 births, females more affected than males Klippel–Feil syndrome ( KFS ), also known as cervical vertebral fusion syndrome , is a rare congenital condition characterized by the abnormal fusion of any two of the seven bones in the neck ( cervical vertebrae ). [1] : 578 It results in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline . [2] The syndrome is difficult to diagnose, as it occurs in a group of patients affected with many different abnormalities who can only be unified by the presence of fused or segmental cervical vertebrae. [3] KFS is not always genetic and not always known the day of the birth. ... The most common signs of the disorder are restricted mobility of the neck and upper spine and a shortened neck with the appearance of a low hairline at the back of the head. [ citation needed ] Associated abnormalities may include: [6] [7] [8] [9] Scoliosis (sideways curvature of the spine) Spina bifida Problems with the kidneys and the ribs Cleft palate Dental problems (delayed dentition , cavities , missing teeth ) Respiratory problems Heart defects Short stature Duane syndrome Srb's anomaly Sprengel's deformity The disorder also may be associated with abnormalities of the head and face, skeleton , sex organs , muscles , brain and spinal cord , arms, legs and fingers. [ citation needed ] Genetics [ edit ] See also: Dominance (genetics) Mutations of the GDF6 , GDF3 and MEOX1 gene are associated with KFS. [2] The cause of the condition is unknown in individuals with KFS who do not have mutations of these two genes. ... They described patients who had a short, webbed neck ; decreased range of motion (ROM) in the cervical spine; and a low hairline. Feil subsequently classified the syndrome into 3 categories: [ citation needed ] Type I — Fusion of C2 and C3 with occipitalization of the atlas .

Clinical description The syndrome was first reported in 1912 by Maurice Klippel and André Feil and is often associated with the classic clinical triad of manifestations consisting of a low posterior hairline, short neck, and limited neck range of motion.

The clinical triad consists of short neck, low posterior hairline, and limited neck movement, although less than 50% of patients demonstrate all 3 clinical features (Tracy et al., 2004).

Diagnostic methods Diagnosis is based on clinical and laboratory findings. Circulating mixed cryoglobulins, low levels of complement component 4 and orthostatic skin purpura are the hallmarks of the disease.

Those with panniculitis-associated AGL may present erythematous nodules. [10] Metabolic complications include insulin resistance, high metabolic rate, and uncontrolled lipid levels such as hypertriglyceridemia, low HDL, and high LDL. Patients may develop diabetes mellitus secondary to insulin resistance . ... Specifically, the diagnosis is strongly considered for those requiring ≥200 units/day of insulin and persistent elevation of ≥250 mg/dl of triglyceride levels. [7] The use of leptin levels should be carefully approached. [7] While low leptin levels are helpful for making the diagnosis, they are not specific for the lipodystrophy.

Acquired angioedema (AAE) is a rare disorder that causes recurrent episodes of swelling (edema) of the face or body, lasting several days. People with AAE may have swelling of the face, lips, tongue, limbs, or genitals. People with AAE can have edema of the lining of the digestive tract, which can cause abdominal pain and nausea, as well as edema of the upper airway, which can be life-threatening. Swelling episodes may have various triggers, such as mild trauma (such as dental work), viral illness, cold exposure, pregnancy, certain foods, or emotional stress. The frequency of episodes is unpredictable and can vary widely. There are two forms of AAE.

A number sign (#) is used with this entry because of evidence that susceptibility to angioedema induced by angiotensin-converting enzyme (ACE; 106280) inhibitors (AEACEI) is conferred by variation in the XPNPEP2 gene (300145) on chromosome Xq25. Description Approximately 40 million people take ACE inhibitors (ACEi) to treat hypertension and cardiovascular disease. A small proportion of white patients who take ACEi (0.1-0.7%) develop angioedema (AEACEI) (Israili and Hall, 1992; Vleeming et al., 1998), a potentially life-threatening side effect characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. ACEi-associated angioedema is 4 to 5 times more prevalent among African Americans (Brown et al., 1996; Coats, 2002). Other risk factors include female sex, smoking, immunosuppressant therapy, and seasonal allergies.

Acquired C1 esterase inhibitor deficiency Other names Acquired angioedema Specialty Hematology Acquired C1 esterase inhibitor deficiency presents with symptoms indistinguishable from hereditary angioedema , but generally with onset after the fourth decade of life. [1] : 153 C4 levels are low and C3 levels are normal. [2] See also [ edit ] Hereditary Angioedema Wheal response Urticaria Skin lesion List of cutaneous conditions References [ edit ] ^ James, William; Berger, Timothy; Elston, Dirk (2005).

In this analysis, it is usually a reduced complement factor C4, rather than the C1-INH deficiency itself, that is detected. ... Some patients have reported success with the combination of a nightly low dose of cetirizine to moderate the frequency and severity of attacks, followed by a much higher dose when an attack does appear. ... Cinnarizine may also be useful because it blocks the activation of C4 and can be used in patients with liver disease, whereas androgens cannot. [22] Prophylaxis [ edit ] Future attacks of HAE can be prevented by the use of androgens such as danazol , oxandrolone or methyltestosterone .