SMP0000509
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Hyper-IgD Syndrome
Hyperimmunoglobulinemia D syndrome, or HIDS, is a condition characterized by fevers that come and go, usually lasting 3-7 days, and other various symptoms such as rashes, vomiting, diarrhea and aphthous ulcers. These are usually noticed within the first year of a patient's life, and the highest frequency of HIDS usually occurs during childhood/adolescence. It occurs due to a mevalonate kinase deficiency inherited from both parents. In patients with this condition, the MVK gene is mutated, resulting in a lack of mevalonate kinase. Although globally this condition is rare, there are much higher instances in The Netherlands, about 1 in 350 Dutch nationals carry this mutation.
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SMP0125642
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Hyper-IgD Syndrome
Hyperimmunoglobulinemia D syndrome, or HIDS, is a condition characterized by fevers that come and go, usually lasting 3-7 days, and other various symptoms such as rashes, vomiting, diarrhea and aphthous ulcers. These are usually noticed within the first year of a patient's life, and the highest frequency of HIDS usually occurs during childhood/adolescence. It occurs due to a mevalonate kinase deficiency inherited from both parents. In patients with this condition, the MVK gene is mutated, resulting in a lack of mevalonate kinase. Although globally this condition is rare, there are much higher instances in The Netherlands, about 1 in 350 Dutch nationals carry this mutation.
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SMP0125641
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Hypercholesterolemia
Hypercholesterolemia, also called elevated cholesterol, is an autosomal dominant disorder caused by a defective LDLR gene. The LDLR gene codes for a receptor that binds to low-density lipoprotein which are carriers of cholesterol in the blood. The mutation on the LDLR gene causes the removal of cholesterol from the bloodstream to be limited, resulting in a buildup of cholesterol in the blood. This disorder is characterized by a large accumulation of cholesterol in the blood. Symptoms of the disorder include angina, tendon xanthomas increased risk of cardiac arrest. Treatment with atorvastatin, simvastatin or rosuvastatin, in combination with a heart healthy diet and regular exercise is very effective. It is estimated that hypercholesterolemia affects 1 in 500 individuals in most countries.
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SMP0000209
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Hypercholesterolemia
Hypercholesterolemia, also called elevated cholesterol, is an autosomal dominant disorder caused by a defective LDLR gene. The LDLR gene codes for a receptor that binds to low-density lipoprotein which are carriers of cholesterol in the blood. The mutation on the LDLR gene causes the removal of cholesterol from the bloodstream to be limited, resulting in a buildup of cholesterol in the blood. This disorder is characterized by a large accumulation of cholesterol in the blood. Symptoms of the disorder include angina, tendon xanthomas increased risk of cardiac arrest. Treatment with atorvastatin, simvastatin or rosuvastatin, in combination with a heart healthy diet and regular exercise is very effective. It is estimated that hypercholesterolemia affects 1 in 500 individuals in most countries.
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SMP0000485
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Hyperglycinemia, Non-Ketotic
Nonketotic hyperglycinemia (GCE) is a rare inborn error of metabolism (IEM) and autosomal recessive disorder caused by a defective GLDC gene. GLDC encodes for the enzymes involved in the conversion of glycine to CO2, NH3 and hydroxymethyltetrahydrofolic acid. Most patients have abnormally low oxalate excretion in the urine. Other symptoms start presenting in the first few days of life and include lethargy, hypotonia, and myoclonic jerks, and progressing to apnea. GCE often leads to death, and those who regain spontaneous respiration develop intractable seizures and profound mental retardation. Currently there is no cure for Nonketotic hyperglycinemia therefore treatment involves managing symptoms. Frequency for Nonketotic hyperglycinemia has not been documented worldwide.
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SMP0125787
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Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme, with a key role in the nitrogen and glutamate (Glu) metabolism and the energy homeostasis. An excessive activity of this enzyme results in high insulin and ammonia levels in blood; decrease level of glucose in blood. Symptoms and signs include shakiness, weakness, seizure, rapid pulse and confusion. Maintain normoglycemia is essencial to prevent neurologic damage. Some medications can be used to suppress insulin secretion.
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SMP0000339
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Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinism-hyperammonemia syndrome (HHS; Glutamate dehydrogenase 1; GLUD1), an inherited condition, is caused by a defect in the GLUD1 gene which codes for mitochondrial glutamate dehydrogenase 1. It is a mitochondrial matrix enzyme, with a key role in the nitrogen and glutamate (Glu) metabolism and the energy homeostasis. An excessive activity of this enzyme results in high insulin and ammonia levels in blood; decrease level of glucose in blood. Symptoms and signs include shakiness, weakness, seizure, rapid pulse and confusion. Maintain normoglycemia is essencial to prevent neurologic damage. Some medications can be used to suppress insulin secretion.
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SMP0000527
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Hyperlysinemia I, Familial
Hyperlysinemia type I is a rare inherited inborn error of metabolism (IEM) of lysine metabolism. It is an autosomal recessive disorder that is caused by a defect in the alpha-aminoadipic semialdehyde synthase gene (AASS). The AASS gene encodes a bifunctional enzyme that contains lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective. AASS is involved in the first two steps of the lysine degradation pathway. Lysine-alpha-ketoglutarate reductase catalyzes the metabolism of lysine to saccharopine, which is then cleaved to alpha-aminoadipic semialdehyde and glutamic acid by saccharopine dehydrogenase. Hyperlysinemia type I is characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Pipecolic acid can also be increased in serum and urine, while ornithine is typically decreased. Clinical symptoms of hyperlysinemia are highly variable. The descriptions range from symptom-free to severe developmental delay, spastic diplegia, seizures, rigidity, coma, episodic vomiting, and diarrhea. For the vast majority of people, hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition.
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SMP0125700
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Hyperlysinemia I, Familial
Hyperlysinemia type I is a rare inherited inborn error of metabolism (IEM) of lysine metabolism. It is an autosomal recessive disorder that is caused by a defect in the alpha-aminoadipic semialdehyde synthase gene (AASS). The AASS gene encodes a bifunctional enzyme that contains lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective. AASS is involved in the first two steps of the lysine degradation pathway. Lysine-alpha-ketoglutarate reductase catalyzes the metabolism of lysine to saccharopine, which is then cleaved to alpha-aminoadipic semialdehyde and glutamic acid by saccharopine dehydrogenase. Hyperlysinemia type I is characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Pipecolic acid can also be increased in serum and urine, while ornithine is typically decreased. Clinical symptoms of hyperlysinemia are highly variable. The descriptions range from symptom-free to severe developmental delay, spastic diplegia, seizures, rigidity, coma, episodic vomiting, and diarrhea. For the vast majority of people, hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition.
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SMP0000528
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Hyperlysinemia II or Saccharopinuria
Saccharopinuria (also known as: saccharopinemia, saccharopine dehydrogenase deficiency, and alpha-aminoadipic semialdehyde synthase deficiency, hyperlysinemia type II) is an autosomal recessive disease characterized by high concentrations of saccharopine in the plasma and urine.It is caused by the deficiency of the enzyme alpha-aminoadipic semialdehyde synthase (AASS). AASS contains a lysine ketoglutarate reductase (LKR) domain which catalyzes the conversion of lysine to saccharopine, and a saccharapine dehydrogenase (SDH) domain which catalyzes the conversion of saccharopine to alpha-aminoadipic semialdehyde. Hyperlysinemia type II is categorized by the loss in SDH activity but the preservation of significant amounts of LKR activity. This leads to the accumulation of saccharopine. The loss of both enyzmatic functions is categorized as hyperlysinemia type I.
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