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Fumarase deficiency is caused by a mutation in the fumarate hydratase (FH) gene in humans, which encodes the enzyme that converts fumarate to malate in the mitochondria. Other mutant alleles of the FH gene, located on human chromosome 1 at position 1q42.1, cause multiple cutaneous and uterine leiomyomata , hereditary leiomyomatosis and renal ...
Some people with a metabolic myopathy never develop symptoms due to the body's ability to produce enough ATP through alternative pathways (e.g. the majority of those with AMP-deaminase deficiency are asymptomatic [1] [21]). H 2 O + ATP → H + + ADP + P i + energy → muscle contraction [22] ATP is needed for muscle contraction by two processes:
In AIP, over 100 mutations have been identified on the long arm of chromosome 11 at the HMBS gene, which codes for the cytoplasmic enzyme porphobilinogen deaminase. [16] This deficiency prevents heme synthesis, which can not be completed and the metabolite porphobilinogen accumulates in the cytoplasm.
Treatment: There is no specific treatment for hand, foot, and mouth disease but the CDC says that taking over-the-counter medications like acetaminophen or ibuprofen can help to relieve fever and ...
PCT is characterized by onycholysis and blistering of the skin in areas that receive higher levels of exposure to sunlight. The primary cause is a deficiency of uroporphyrinogen decarboxylase (UROD), a cytosolic enzyme that is a step in the enzymatic pathway that leads to the synthesis of heme. Behind the direct cause there are a number of ...
Treatment depends on the underlying cause. [1] Phosphate may be given by mouth or by injection into a vein. [1] Hypophosphatemia occurs in about 2% of people within hospital and 70% of people in the intensive care unit (ICU). [1] [3]
"In the 60s, the skin tends to become drier, thinner and more delicate due to decreased natural oil production and a decline in collagen and elastin," said Dr. Hannah Kopelman, host of the podcast ...
Mutations in the TMEM70 gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to nuclear type 2 Complex V (ATP synthase) deficiency. [5] There are a wide variety of possible symptoms depending on the mutation, including 3-methylglutaconic aciduria, dysmorphic features, psychomotor retardation, hypotonia, growth retardation, mitochondrial myopathy and cardiomyopathy ...