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Neu–Laxova Syndrome
Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and multiple congenital malformations. Neu–Laxova syndrome is a very severe disorder, leading to stillbirth or death shortly after birth. It was first described by Dr. Richard Neu in 1971 and Dr. Renata Laxova in 1972 as a lethal disorder in siblings with multiple malformations. Neu–Laxova syndrome is an extremely rare disorder with fewer than 100 cases reported in medical literature. Signs and symptoms Neu-Laxova syndrome presents with severe malformations leading to prenatal or neonatal death. Typically, NLS involves characteristic facial features, decreased fetal movements and skin abnormalities. Fetuses or newborns with Neu–Laxova syndrome have typical facial characteristics which include proptosis (bulging eyes) with eyelid malform ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
3-phosphoglycerate Dehydrogenase Deficiency
Autosomal recessive disorders Congenital disorders Syndromes with cleft lip and/or palate Syndromes with craniofacial abnormalities Syndromes affecting the nervous system Syndromes with dysmelia Rare syndromes ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lissencephaly
Lissencephaly (, meaning 'smooth brain') is a set of rare brain disorders whereby the whole or parts of the surface of the brain are smooth. It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds (gyri) and grooves (sulci). It is a form of cephalic disorder. Terms such as ''agyria'' (no gyri) and '' pachygyria'' (broad gyri) are used to describe the appearance of the surface of the brain. Children with lissencephaly generally have significant developmental delays, but these vary greatly from child to child depending on the degree of brain malformation and seizure control. Life expectancy can be shortened, generally due to respiratory problems. Signs and symptoms Affected children display severe psychomotor impairment, failure to thrive, seizures, and muscle spasticity or hypotonia. Other symptoms of the disorder may include unusual facial appearance, difficulty swallowing, and anomalies of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Polyhydramnios
Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly. The opposite to polyhydramnios is oligohydramnios, not enough amniotic fluid. Presentation Associated conditions Fetuses with polyhydramnios are at risk for a number of other problems including cord prolapse, placental abruption, premature birth and perinatal death. At delivery the baby should be checked for congenital abnormalities. Causes In most cases, the exact cause cannot be identified. A single case may have one or more causes, including intrauterine infection (TORCH), rh-isoimmunisation, or chorioangioma of the placenta. In a multiple gestation pregna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Growth
Cell most often refers to: * Cell (biology), the functional basic unit of life * Cellphone, a phone connected to a cellular network * Clandestine cell, a penetration-resistant form of a secret or outlawed organization * Electrochemical cell, a device used to convert chemical energy to electrical energy * Prison cell, a room used to hold people in prisons Cell may also refer to: Arts, entertainment, and media Fictional entities * Cell (comics), a Marvel comic book character * Cell (Dragon Ball), Cell (''Dragon Ball''), a character in the manga series ''Dragon Ball'' Literature * Cell (novel), ''Cell'' (novel), a 2006 horror novel by Stephen King * "Cells", poem, about a hungover soldier in gaol, by Rudyard Kipling *The Cell (play), ''The Cell'' (play), an Australian play by Robert Wales Music * Cell (music), a small rhythmic and melodic design that can be isolated, or can make up one part of a thematic context * Cell (American band) * Cell (Japanese band) * Cell (album), ''Cell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Serine
Serine (symbol Ser or S) is an α-amino acid that is used in the biosynthesis of proteins. It contains an α- amino group (which is in the protonated − form under biological conditions), a carboxyl group (which is in the deprotonated − form under biological conditions), and a side chain consisting of a hydroxymethyl group, classifying it as a polar amino acid. It can be synthesized in the human body under normal physiological circumstances, making it a nonessential amino acid. It is encoded by the codons UCU, UCC, UCA, UCG, AGU and AGC. Occurrence This compound is one of the proteinogenic amino acids. Only the L- stereoisomer appears naturally in proteins. It is not essential to the human diet, since it is synthesized in the body from other metabolites, including glycine. Serine was first obtained from silk protein, a particularly rich source, in 1865 by Emil Cramer. Its name is derived from the Latin for silk, '' sericum''. Serine's structure was established in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PSPH
Phosphoserine phosphatase is an enzyme that in humans is encoded by the ''PSPH'' gene. Function The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. Clinical significance Homozygous or compound heterozygous mutations in ''PSPH'' cause Neu–Laxova syndrome Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povýsilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form) is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and ... and Phosphoserine phosphatase deficiency. References Further reading * * * * * * * * * * * * * * * External links ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PSAT1
Phosphoserine aminotransferase (PSA) also known as phosphohydroxythreonine aminotransferase (PSAT) is an enzyme that in humans is encoded by the ''PSAT1'' gene. The protein encoded by this gene is likely a phosphoserine aminotransferase, based on similarity to proteins in mouse, rabbit, and ''Drosophila''. Alternative splicing of this gene results in two transcript variants encoding different isoforms. Clinical significance Homozygous or compound heterozygous mutations in ''PSAT1'' cause Neu–Laxova syndrome and phosphoserine aminotransferase deficiency. See also * Phosphoserine transaminase Phosphoserine transaminase (, ''PSAT'', ''phosphoserine aminotransferase'', ''3-phosphoserine aminotransferase'', ''hydroxypyruvic phosphate-glutamic transaminase'', ''L-phosphoserine aminotransferase'', ''phosphohydroxypyruvate transaminase'', '' ... References Further reading * * * * * External links * Genes mutated in mice EC 2.6.1 {{gene-9-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PHGDH
Phosphoglycerate dehydrogenase (PHGDH) is an enzyme that catalyzes the chemical reactions :3-phospho-D-glycerate + NAD+ \rightleftharpoons 3-phosphonooxypyruvate + NADH + H+ :2-hydroxyglutarate + NAD+ \rightleftharpoons 2-oxoglutarate + NADH + H+ The two substrates of this enzyme are 3-phospho-D-glycerate and NAD+, whereas its 3 products are 3-phosphohydroxypyruvate, NADH, and H+ It is also possible that two substrates of this enzyme are 2-hydroxyglutarate and NAD+, whereas its 3 products are 2-oxoglutarate, NADH, and H+. As of 2012, the most widely studied variants of PHGDH are from the ''E. coli'' and ''M. tuberculosis'' genomes. In humans, this enzyme is encoded by the ''PHGDH'' gene. Function 3-Phosphoglycerate dehydrogenase catalyzes the transition of 3-phosphoglycerate into 3-phosphohydroxypyruvate, which is the committed step in the phosphorylated pathway of L-serine biosynthesis. It is also essential in cysteine and glycine synthesis, which lie further downst ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Compound Heterozygosity
In medical genetics, compound heterozygosity is the condition of having two or more heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state; that is, an organism is a compound heterozygote when it has two recessive alleles for the same gene, but with those two alleles being different from each other (for example, both alleles might be mutated but at different locations). Compound heterozygosity reflects the diversity of the mutation base for many autosomal recessive genetic disorders; mutations in most disease-causing genes have arisen many times. This means that many cases of disease arise in individuals who have two unrelated alleles, who technically are heterozygotes, but both the alleles are defective. These disorders are often best known in some classic form, such as the homozygous recessive case of a particular mutation that is widespread in some population. In its compound heterozygous forms, the disease may have lower pene ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Homozygous
Zygosity (the noun, zygote, is from the Greek "yoked," from "yoke") () is the degree to which both copies of a chromosome or gene have the same genetic sequence. In other words, it is the degree of similarity of the alleles in an organism. Most eukaryotes have two matching sets of chromosomes; that is, they are diploid. Diploid organisms have the same loci on each of their two sets of homologous chromosomes except that the sequences at these loci may differ between the two chromosomes in a matching pair and that a few chromosomes may be mismatched as part of a chromosomal sex-determination system. If both alleles of a diploid organism are the same, the organism is homozygous at that locus. If they are different, the organism is heterozygous at that locus. If one allele is missing, it is hemizygous, and, if both alleles are missing, it is nullizygous. The DNA sequence of a gene often varies from one individual to another. These gene variants are called alleles. While some ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Inborn Error Of Metabolism
Inborn errors of metabolism form a large class of genetic diseases involving congenital disorders of enzyme activities. The majority are due to defects of single genes that code for enzymes that facilitate conversion of various substances (substrate (biochemistry), substrates) into others (Product (chemistry), products). In most of the disorders, problems arise due to accumulation of substances which are toxic or interfere with normal function, or due to the effects of reduced ability to synthesize essential compounds. Inborn errors of metabolism are often referred to as congenital metabolic diseases or inherited metabolic disorders. Another term used to describe these disorders is "enzymopathies". This term was created following the study of Biochemical Processes, biodynamic enzymology, a science based on the study of the enzymes and their products. Finally, ''inborn errors of metabolism'' were studied for the first time by British physician Archibald Garrod (1857–1936), in 1908. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neural Tube Defect
Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium remains from early in human development. In the third week of pregnancy called gastrulation, specialized cells on the dorsal side of the embryo begin to change shape and form the neural tube. When the neural tube does not close completely, an NTD develops. Specific types include: spina bifida which affects the spine, anencephaly which results in little to no brain, encephalocele which affects the skull, and iniencephaly which results in severe neck problems. NTDs are one of the most common birth defects, affecting over 300,000 births each year worldwide. For example, spina bifida affects approximately 1,500 births annually in the United States, or about 3.5 in every 10,000 (0.035% of US births), which has decreased from around 5 per 10,000 (0.05% of US births) since folate fortification of grain products was started. The number of deaths in the US each year due to neural tu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
