The researchers conservatively estimate that about one in 2,500 people in Nunavik may have glycogen storage disease
Glycogen storage disease
type II: Acid alpha-glucosidase (acid maltase) deficiency.
The increase in information about glycogen storage disease
1a and GSD 1b and in the rate of determination of mutation gave the idea of diagnosing GSD 1a and GSD 1b with mutation analysis together with clinical and biochemical abnormalities instead of enyzmatic measurement by liver biopsy which is an invasive method.
In conclusion, although CDS is a rare lipid storage disease
, it should be a consideration in every patient with congenital ichthyosis, especially those with extracutaneous signs, as a simple peripheral smear can establish the diagnosis.
In lysosomal storage diseases
like MPS I, enzymes needed to dissolve debris are missing, allowing debris to build up in cells until they malfunction.
CT}: Right now, the technology is becoming available and there is a whole push to get a number of lysosomal storage diseases
as part of the newborn screening panel.
Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease
Type I Glycogen Storage Disease
is a deficiency of the enzyme glucose -6 - phosphatase which helps in maintaining a normal blood glucose (sugar concentration) during fasting.
A diagnosis of glycogen storage disease
was made as a result of histopathologic examination by liver needle biopsy in the patients who were being followed up in Akdeniz University Medical Faculty, Division of Pediatric Gastroenterology, Hepatology and Nutrition.
16,17) Whether the two conditions are associated or not, the owner of this bird was informed that starlings should be fed an iron-restricted diet because of their predisposition to iron storage disease
Sialic acid storage diseases
(SSDs) (3) are autosomal recessive neurodegenerative disorders that may present as a severe infantile form, infantile sialic acid storage disease
(ISSD), or as a slowly progressive adult form that is prevalent in the Finnish population, called Salla disease (1).
After an odyssey of visits to specialists and an incorrect diagnoses of mucopolysaccharidosis (MPS), (a genetic metabolic storage disease
, and cerebral palsy), Scott was finally diagnosed correctly.