Inborn error of carbohydrate metabolism

•

9 likes•1,358 views

Amna Sheikh

Healthcare

Major inborn errors of carbohydrates
metabolism are :
• Glycogen storage disease
• Congenital galactosaemia
• Galactokinase deficiency
• Essential fructosuria
• Hereditary fructose intolerance
• Essential pentosuria

Detection Methods
• Analysis Of Carbohydrates In Urine
• Reagent strip glucose oxidase test
• Clinitest
• Acetest
• Rothera’s test
• Bial’s Test for Pentoses

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Amino acid metabolism disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. Amino acids are the building blocks of proteins and have many functions in the body. Hereditary disorders of amino acid processing (metabolism) can result from defects either in the breakdown of amino acids or in the body’s ability to get amino acids into cells.

Disorders of amino acid metabolism

EvelinJoseph4

Homocystinuria

Marudhar Kesari Jain College for Women Vaniyambadi - 635 751, Tamil Nadu, INDIA.

PA is a type of vitamin B12 deficiency that results from an impaired update of vitamin B12 due to lack of Intrinsic factor. It is an autoimmune disease, diagnosed by using family history, physical examination and laboratory diagnosis. Symptoms associated with a lemon tint of skin, painful tongue, diarrhoea, peripheral neuropathy and myelopathy, splenomegaly, shortness of breath yellowish eyes, dementia, muscle pain and weakness.

Pernicious Anaemia (pa)

aswathydhiya

Vitamin B12 and Folate

Abhishek Roy, M.B.B.S., M.D.

Galactosemia

Hina Rodge

Galactosemia

Cherry Kristine Lavador

Disorders amino acids

Erhard Rutashobya

Tyrosinemia2

Prof.Louay Labban

Inborn error of metabolism

lamiaa Gamal

Refsum disease

american instituion of medical university

ALCOHOL METABOLISM

YESANNA

GLCOGEN STORAGE DISORDERS

Srirama Anjaneyulu

Glycogen storage disorders pathology

manisha nadar

Metabolic functions of folate

Domina Petric

Approach to inborn error of metabolism

hemang mendpara

Megaloblastic anemia

drimransofi

Lysosomal storage diseases

kasinghshekhawat

Inborn errors of carbohydrate metabolism

Ekta Dugar

03 g6 pd deficiency

James Ekwensi

PORPHYRIAS

YESANNA

What's hot (20)

Disorders of amino acid metabolism

Homocystinuria

Pernicious Anaemia (pa)

Vitamin B12 and Folate

Galactosemia

Disorders amino acids

Tyrosinemia2

Inborn error of metabolism

Refsum disease

ALCOHOL METABOLISM

GLCOGEN STORAGE DISORDERS

Glycogen storage disorders pathology

Metabolic functions of folate

Approach to inborn error of metabolism

Megaloblastic anemia

Lysosomal storage diseases

Inborn errors of carbohydrate metabolism

03 g6 pd deficiency

PORPHYRIAS

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