Metabolic Disorders Important for CSIR NET Exam

Metabolic disorders:
Find the table below for few important metabolic disorders.

Disease	Deficiency
Taysachs disease	HexosaminidaseA
Gaucher’s disease	N acetyl galactosidase
SCID	Adenosine deaminase
Gout	HGPRTase, glucose 6  phosphatase
Lesch nyhan’s syndrome	HGPRTase
Porphyria	Uroporphyrinogen III synthase
Von Gierke’s disease	Glucose 6 phosphatase
Pompe’s disease	Alpha 1,4 glucosidase
Cori's disease	Debranching enzyme
Alkaptonuria	Homogentisate dioxygenase
Maple syrup urine	Branched chain 1 keto acid dehydrogenase
Phenyl ketonuria	Phenyl alanine hydroxylase

Taysach's disease:

• Genetic disorder.
• Deficiency- Hexosaminidase A.
• Symptoms- Difficulty in sitting and crawling in the initial stage. Later stage causes hearing loss, inability to move and seizures.
• Occur in- Usually Infants and rarely adults.
• Disease feature- Destruction of nerves.
• Diagnosis- Measuring hexosaminidase enzyme and genetic testing.   

Gaucher’s disease:

• Genetic disorder.
• Deficiency- Glucocerebrosidase.
• Symptoms- Anemia, fatigue, low blood platelets and liver and spleen enlargement.
• Disease features-  Neurological complications, Skeletal disorders.
• Diagnosis- Enzyme testing.

SCID:

• Genetic disorder.
• Deficiency- Adenosine deaminase.
• Symptoms- Susceptible to infections.
• Disease feature- Immunodeficiency.
• Diagnosis- Real time quantitative PCR.  

Gout:

• Deposition of uric acid crystals in joints.
• Occur in- Old male and females.
• Deficiency- HGPRTase, Glucose 6  phosphatase.
• Symptoms- Joint pain, swelling and redness.
• Disease feature- Inflammatory arthritis.
• Diagnosis- Synovial fluid analysis, Erythrocyte sedimentation rate, Differential diagnosis 

Lesch–Nyhan syndrome:

• Inherited disorder.
• Deficiency- HGPRTase.
• Symptoms- Neurological dysfunction.
• Disease feature- Hyperuricemia and hyperuricosuria.
• Diagnosis- Genetic testing and biological analysis.

Porphyria: 

• Caused by genetics and drugs.
• Deficiency- Uroporphyrinogen III synthase.
• Symptoms- Chest pain, abdominal pain, vomiting, constipation etc.
• Disease feature- Skin and nervous system disease.
• Diagnosis- Genetic testing, blood, urine and stool tests.

von Gierke disease:

• Genetic disease.
• Deficiency- Glucose 6 phosphatase
• Symptoms- Intellectual disability, hypoglycemia, acidosis etc.
• Disease feature- Kidney and liver diseases.
• Diagnosis- Ultrasound and gene testing.

Pompe disease:

• Metabolic disease.
• Deficiency- Alpha 1,4 glucosidase. 
• Symptoms- Cardiomegaly, hypotonia, cardiomyopathy, and growth failure.
• Disease feature- Myopathy.
• Diagnosis-  Electrocardiogram, X-ray, echocardiography and enzyme assay.

Cori's disease:

• Metabolic disease.
• Deficiency- Debranching enzyme.
• Symptoms- Hypoglycemia, muscle diseases, liver pathology
• Disease features- Hepatomegaly, cardiomyopathy etc.
• Diagnosis- Blood count, ultrasound, genetic analysis etc.

Alkaptonuria:

• Genetic disorder.
• Deficiency- Homogentisate dioxygenase.
• Symptoms- Pigmentation, valvular heart diseases, hearing loss, kidney stones.
• Disease features- Cartilage damage and kidney stones.
• Diagnosis- Chromatography

Maple syrup urine:

• Metabolic disorder.
• Deficiency- Branched chain 1 keto acid dehydrogenase.
• Symptoms- Brain damage, neurological decline etc.
• Disease features- Urine smells like maple syrup, cerebral edema, coma etc.
• Diagnosis- Plasma amino acid measurement. 

Phenylketonuria:

Genetic disorder.

Deficiency- Phenyl alanine hydroxylase

Symptoms- Mental disorders, musty cells, lighter skin etc.

Disease features- Seizures, intellectual disabilities, behavioral problems.

Diagnosis- Mass spectroscopy, immunoassay, photometric detection or fluorometric detection.