How common is GRACILE syndrome?
GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature.
What is GRACILE syndrome?
GRACILE syndrome is an inherited metabolic disease . GRACILE stands for growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death. Infants are very small at birth and quickly develop life-threatening complications.
How is Griscelli syndrome inherited?
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
What is Smith Lemli Opitz syndrome?
Smith-Lemli-Opitz syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate mental retardation and multiple birth defects including particular facial features, cleft palate, heart defects, fused second and third toes, extra …
What is Salla disease?
Salla disease is a less severe form of sialic acid storage disease. Babies with Salla disease usually begin exhibiting hypotonia during the first year of life and go on to experience progressive neurological problems.
Which species are considered to be gracile?
Australopithecus afarensis and africanus, and the other species above, are known as gracile australopithecines, because of their relatively lighter build, especially in the skull and teeth. (Gracile means “slender”, and in paleoanthropology is used as an antonym to “robust”.)
What is gracile and robust?
Gracile refers to any member of the species, belonging to the genus Australopithecus with relatively a lighter build, especially in the skull and teeth, but robust refers to the species of the genus Australopithecus, especially belonging to the contested genus, Paranthropus.
What is atypical Griscelli syndrome?
Griscelli syndrome type 2 (also known as “partial albinism with immunodeficiency”) is a rare autosomal recessive syndrome characterized by variable cutenous albinism, silver colored metallic looking hair, frequent bacterial or viral infections, neutropenia, and thrombocytopenia.
How is Griscelli syndrome diagnosed?
The diagnosis of the three types of GS can be established by the clinical signs and light microscopic examination, evidencing large clumps of pigment in hair shafts and the accumulation of mature melanosomes in melanocytes. A decrease in T and NK lymphocyte degranulation and cytotoxicity characterize GS type 2.
Is Smith-Lemli-Opitz syndrome dominant or recessive?
The enzyme deficiency occurs as the result of an abnormal DHCR7 gene inherited from each parent. SLOS is an autosomal recessive genetic disorder.
How common is Smith-Lemli-Opitz?
Smith-Lemli-Opitz syndrome affects an estimated 1 in 20,000 to 60,000 newborns. This condition is most common in whites of European ancestry, particularly people from Central European countries such as Slovakia and the Czech Republic. It is very rare among African and Asian populations.
What is Mucolipidosis?
Definition. The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells.
Where is GRACILE syndrome most likely to be found?
GRACILE syndrome is found almost exclusively in Finland, where it is estimated to affect 1 in 47,000 infants. At least 32 affected infants have been described in the medical literature. GRACILE syndrome is caused by a mutation in the BCS1L gene.
How long do babies with GRACILE syndrome live?
Summary. Although alkali therapy is used as treatment, about half of affected infants do not survive past the first days of life. Those that do survive this period generally do not live past 4 months despite receiving treatment. GRACILE syndrome is caused by a mutation in the BCS1L gene, and it is inherited in an autosomal recessive pattern.
How does GRACILE syndrome affect the mitochondria?
GRACILE syndrome is caused by a mutation in the BCS1L gene, and it is inherited in an autosomal recessive pattern. The BCS1L gene provides instructions needed by the mitochondria in cells to help produce energy. [1] This table lists symptoms that people with this disease may have.
What is the incidence and prevalence of schizophrenia?
The median incidence of schizophrenia was 15.2/100,000 persons, and the central 80% of estimates varied over a fivefold range (7.7–43.0/100,000). The rate ratio for males:females was 1.4:1. Prevalence estimates also show prominent variation.