Notes in Lysosomal Storage Diseases

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Published	02/07/2024	Which syndromes are related to Mucopolysaccharidoses?
Published	02/07/2024	What enzyme is deficient in Hurler Syndrome?
Published	02/07/2024	What enzyme is deficient in Hunter syndrome?
Published	02/07/2024	What disorders are related to Sphingolipidoses?
Published	02/07/2024	What are the two common build up metabolic products caused by deficiency of Lysosomal enzymes?
Published	02/07/2024	What are ceramides and ceramides derivatives made from?
Published	02/07/2024	Heparan sulfate and dermatan sulfate build up most likely to cause ..?
Published	02/07/2024	Where do mucopolysaccharides come from?
Published	02/07/2024	GM2 ganglioside is metabolized in what product by which enzyme??
Published	02/07/2024	Tay-Sachs Disease presentation is commonly associated with a build up of gangliosides involved with??
Published	02/07/2024	What is the inheritance pattern of Tay-Sachs disease??
Published	02/07/2024	Epidemiologically Tay-Sachs Disease is frequently diagnosed in which ethnicity sector??
Published	02/07/2024	Age of onset most commonly diagnosed in Tay-Sachs disease
Published	02/07/2024	Physical examen findings in Tay-Sachs Disease?
Published	02/07/2024	Where does Ceramide come from?
Published	02/07/2024	Diagnosis of Tay-Sachs Disease?
Published	02/07/2024	Most likely differential diagnosis of Tay-Sachs Disease?
Published	02/07/2024	Which enzymes convert Mucopolysaccharide into uronic acid (L-iduronate) and amino sugar?
Published	02/07/2024	11month old patient comes to clinic with hyperreflexia , vision and hearing loss, development delay, weakness, hypotonia, no hepatosplenomegaly detect…
Published	02/07/2024	Which abnormal metabolic product is increased in Sphingolipidosis?
Published	02/07/2024	Ceramide trihexoside will metabolize into Glucocerebroside by the enzyme called:
Published	02/07/2024	Fabry Disease is characterized by build up of which metabolic product??
Published	02/07/2024	Fabry Disease is characterized by the build up of Ceramide trihexoside in which parts of the body??
Published	02/07/2024	What is the inheritance pattern of Fabry Disease?
Published	02/07/2024	Fabry Disease triad consist of:
Published	02/07/2024	Clinical findings in patients with Fabry Disease:
Published	02/07/2024	What is the age of onset of Fabry disease?
Published	02/07/2024	A 16-year-old boy presents to the office with pain and numbness in the distal areas of his extremities, the patient states he has suffered from it sin…
Published	02/07/2024	What is the diagnostics of Fabry disease?
Published	02/07/2024	What is the treatment of Fabry disease?
Published	02/07/2024	Deathliest complications of patients with Fabry Disease:
Published	02/07/2024	In fabry disease what is the most often initial misdiagnoses?
Published	02/07/2024	Sulfatides degradation by the enzyme Arylsulfatase A results in:
Published	02/07/2024	Sulfatides are a major component of a metabolic substrate related to muscle contraction called:
Published	02/07/2024	What enzyme is deficient in Metachromatic Leukodystrophy?
Published	02/07/2024	Increased levels of Cerebroside sulfate in a patient with hypotonia and ataxia is most likely to get decreased levels of which enzyme in the lab tests…
Published	02/07/2024	Which substrate accumulates in a patient with metachromatic leukodystrophy?
Published	02/07/2024	Inheritance pattern of Metachromatic Leukodystrophy:
Published	02/07/2024	A 3-year-old girl presents to the office with weakness, hypotonia and ataxia as well as speech problems that began 8 months ago. At the neurological e…
Published	02/07/2024	What are the main clinical findings of a patient with Metachromatic Leukodystrophy?
Published	02/07/2024	A child with an diagnosis of Metachromatic Leukodystrophy is sent to you in order to perform a biopsy of his brain, you expect to get certain findings…
Published	02/07/2024	What does the term "Metachromasia" stands for:
Published	02/08/2024	Galactocerebroside degradation results in:
Published	02/08/2024	Psychosine is a metabolic substrate that if built up in CNS becomes:
Published	02/08/2024	What is the major component of myelin?
Published	02/08/2024	A defect in the enzyme Galactocerebroside causes the accumulation of metabolic substrates such as?
Published	02/08/2024	The main pathophysiologic issue with Krabbe Disease is?
Published	02/08/2024	What is the inheritance pattern of Krabbe Disease?
Published	02/08/2024	What are the clinical findings in a patient with Krabbe Disease?
Published	02/08/2024	Low Galactocerebroside activity and presence of Globoid cells in brain biopsy are common findings in what disease?
Published	02/08/2024	A bran tissue is sent to you from a 6 month old child, his primary care doctor suspects of Krabbe Disease.  What will you expect to find in …
Published	02/08/2024	A 6-month-old boy presents to your office with weakness, vision loss and developmental delay. Physical exam reveals hyperreflexia of the brachial refl…
Published	02/08/2024	Management of Krabbe Disease:
Published	02/08/2024	What is Gaucher Disease?
Published	02/08/2024	Deficiency of which enzyme results in Glucocerebroside accumulation?
Published	02/08/2024	In gaucher disease in which tissues does the Glucocerebroside accumulate?
Published	02/08/2024	Which disease is the most common sphigolipidosis?
Published	02/08/2024	Epidemiologically Gaucher Disease is frequently diagnosed in which ethnicity sector??
Published	02/08/2024	Inheritance Pattern of Gaucher disease:
Published	02/08/2024	Clinical findings of Gaucher disease?
Published	02/08/2024	6 year old boy of Ashkenazi Jewish descent who is brought to the emergency department for a sudden severe pain in his right hip, that began that began…
Published	02/08/2024	What is the treatment of Gauche disease?
Published	02/08/2024	Which Gaucher disease type is the most common?
Published	02/08/2024	Laboratory findings of low glucocerebrosidase activity, high concentration of glucocerebrosides in leukocytes and fibroblasts.Presence of Lipid-Laden …
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