HARNTUP DISEASE.pptx
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Hartnup disease is caused by mutations in the SLC6A19 gene. This gene provides instructions for making a protein called B0AT1, which is primarily found embedded in the membrane of the intestine and kidney cells
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![What is hartnup disease ?
• Hartnup disease is a condition caused by the body inability to absorb
certain protein building blocks [amino acid] from the diet .
• It is an autosomal recessive disorder resulting, in impaired functioning of
transport protein intestines and kidneys.
• This activity describes the various etiological factors, pathophysiology, and
management of patients with Hartnup disease.](data:image/gif;base64,R0lGODlhAQABAIAAAAAAAP///yH5BAEAAAAALAAAAAABAAEAAAIBRAA7)
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Porphyrias are metabolic disorders of heme synthesis characterized by increased excretion of porphyrins or their precursors. There are two main types - hepatic, where the enzyme defect is in the liver, and erythropoietic, where it is in bone marrow. Some specific types include acute intermittent porphyria, porphyria cutanea tarda, hereditary coproporphyria, and variegate porphyria. Symptoms vary but can include abdominal pain, photosensitivity, and neuropsychiatric issues. Treatment depends on the specific type but may involve inhibiting certain enzymes to reduce accumulation of intermediates.
Alkaptonuria
Alkaptonuria is a rare inherited disorder caused by a defect in the HGD gene, resulting in a build up of homogentisic acid (HGA) in the body. Symptoms include black urine when exposed to air, joint pain and arthritis, dark spots in the eyes, and discolored skin and earwax. The condition is diagnosed through urine and genetic tests. Treatment focuses on symptom management through medications, therapy, and surgery. A low-protein, high-vitamin C diet is recommended to prevent further HGA build up and slow disease progression.
Lesch–nyhan syndrome
Lesch-Nyhan syndrome is a rare, inherited disorder caused by a deficiency of the HPRT enzyme. It is characterized by overproduction of uric acid leading to physical issues like kidney stones and neurological effects such as cognitive impairment and self-mutilation. There is no cure, and treatment focuses on managing symptoms. Prognosis is generally poor due to the neurological disabilities associated with the condition.
Phenylketonuria
Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. A birth defect that causes an amino acid called phenylalanine to build up in the body.
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Heme synthesis is the biochemical pathway that produces heme, an iron-containing molecule that is an essential part of hemoglobin. The pathway has many steps that occur in both the cytosol and mitochondria of cells. A deficiency in any of the enzymes or substrates involved can cause a condition called porphyria. The first reaction is the rate-limiting step of condensing glycine and succinyl-CoA to form delta-aminolevulinic acid (ALA). Subsequent steps modify ALA and its derivatives to ultimately form protoporphyrin IX. The last step is the insertion of an iron ion into protoporphyrin IX by the enzyme ferrochelatase to complete heme synthesis.
Folic acid (B9)
Folic acid is a water-soluble B vitamin that acts as a coenzyme in single-carbon transfers in amino acid and nucleotide metabolism. It is required for DNA synthesis and cell division. A deficiency can lead to megaloblastic anemia due to impaired DNA synthesis. Rich dietary sources include green leafy vegetables. Folic acid supplementation is important during pregnancy to prevent neural tube defects in newborns.
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Phenylketonuria (PKU) is a rare genetic disorder caused by a mutation in the PAH gene that results in a deficiency of the enzyme phenylalanine hydroxylase. This enzyme is needed to break down the amino acid phenylalanine, which accumulates and causes neurological damage if left untreated. PKU is typically diagnosed via newborn screening and can be successfully managed through a lifelong low-phenylalanine diet and supplements to prevent intellectual disability and other serious issues. Untreated PKU leads to neurological problems, but early diagnosis and strict dietary control allows patients to live healthy lives.
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This document discusses different types of tyrosinemia, which are errors in the metabolism of the amino acid tyrosine. It describes four main types: Type 1 is the most common and severe, caused by a deficiency of the enzyme fumaryl acetoacetate hydrolase and can lead to liver failure in infants if untreated. Type 2 is less severe and involves a deficiency of hepatic transaminase. Neonatal tyrosinemia occurs in premature infants due to absence of an enzyme. Hereditary tyrosinemia is the rarest and involves deficiency of another enzyme, with symptoms including liver failure and possible complications like hypoglycemia and rickets.
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- Iron is absorbed in the small intestine and transported through the blood bound to transferrin. It is stored in the liver, spleen and bone marrow bound to ferritin.
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Copper is an essential trace element that is present in all tissues, especially the liver, kidneys, heart and skeletal muscles. It serves as a cofactor for several enzymes involved in processes like iron transport, collagen crosslinking, melanin synthesis and oxidative phosphorylation. Copper deficiency can result in neutropenia, anemia, bone abnormalities and neurological issues. Menkes and Wilson's diseases are genetic disorders of copper metabolism that involve defects in copper transport and result in copper accumulation in tissues.
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This document discusses the evaluation and management of hematological disorders like anemia. It covers taking a thorough history including symptoms, risk factors, medications and lifestyle. The physical exam focuses on signs of anemia. Initial investigations for anemia types include blood counts, iron, B12 and folate levels. Depending on the results, further testing may include endoscopies, biopsy or bone marrow examination to determine the underlying cause such as nutritional deficiencies, infections, cancers or autoimmune disorders. Pernicious anemia specifically requires serology to guide long term treatment.
Alcoholic hepatitis
1) Alcoholic hepatitis is caused by chronic excessive alcohol ingestion and can lead to fatty liver, alcoholic hepatitis, or alcoholic cirrhosis. Risk increases with more than 60-80 g of alcohol per day for 10 years in men or 20-40 g per day for 10 years in women.
2) Alcoholic hepatitis presents with fever, jaundice, abdominal pain, and muscle wasting. Liver tests show elevated AST and ALT levels and AST:ALT ratio over 2. Treatment involves alcohol abstinence, nutrition support, corticosteroids or pentoxifylline, and liver transplantation may be considered.
3) Drug-induced hepatitis can occur through direct toxicity or idiosyncratic reactions.
Tumor lysis syndrome
Tumor lysis syndrome is an oncologic emergency characterized by hyperuricemia, hyperkalemia, hyperphosphatemia, and hypocalcemia due to the rapid breakdown of tumor cells. It occurs after initiation of chemotherapy or other cytotoxic treatments in cancers with a high proliferative rate or large tumor burden. Prophylaxis includes aggressive hydration and use of urate-lowering agents like allopurinol or rasburicase to prevent uric acid crystal formation and preserve kidney function. Early recognition and treatment are important to prevent complications such as acute kidney injury or life-threatening cardiac arrhythmias.
hcoma.pptx
- Hepatic encephalopathy occurs with liver failure and may result from ammonia accumulation in the blood. It can progress to hepatic coma, the most advanced stage.
- While the exact mechanisms are unclear, ammonia is thought to cause brain dysfunction and damage. Treatment focuses on reducing ammonia levels through lactulose and restricting protein intake.
- Symptoms range from confusion to coma. Medical management aims to treat the underlying cause, monitor for complications, and support the patient and family.
Screening method of herbal drugs & formulation
This document summarizes various methods used to evaluate hepatoprotective activity. Liver function tests and animal models involving induced liver damage are used. Common animal models include those using allyl alcohol, carbon tetrachloride, and paracetamol to induce liver necrosis or damage in rats. The degree of protection is then assessed by examining viability of isolated hepatocytes or liver tissue, and measuring serum enzymes and other biochemical parameters. Several plants commonly used in Ayurveda like turmeric, milk thistle, and licorice are also mentioned as having potential hepatoprotective properties.
Acute liver failure
Acute liver failure is characterized by acute liver injury, hepatic encephalopathy, and elevated INR within 26 weeks without previous liver disease. Common causes include acetaminophen toxicity, viral infections, and idiosyncratic drug reactions. Patients present with symptoms like fatigue, nausea, and jaundice. Complications include cerebral edema, renal failure, electrolyte imbalances, coagulopathy, and infections. Treatment focuses on supportive care, treating encephalopathy, and consideration of liver transplantation for eligible patients. Prognosis depends on the degree of encephalopathy and presence of other risk factors.
Prof dr thiwa tin
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HARNTUP DISEASE.pptx
- 2. What is hartnup disease ? • Hartnup disease is a condition caused by the body inability to absorb certain protein building blocks [amino acid] from the diet . • It is an autosomal recessive disorder resulting, in impaired functioning of transport protein intestines and kidneys. • This activity describes the various etiological factors, pathophysiology, and management of patients with Hartnup disease.
- 3. Symptoms: • Skin rash • Aniety • Rapid mood swings • Speech difficulties • Shot stature • Sensitivity to light
- 4. History: • Hartnup disease was named for the Hartnup family of England, who featured in a 1956 study of the condition. Four out of eight family members were found to have excessive amounts of amino acids in their urine • They also had skin rash and a lack of coordination of their voluntary muscle movements, known as ataxia.
- 5. Diagnosis of Hartnup Disease: • Urine testing for amino acids • Diagnosis of Hartnup disease is made by showing the characteristic amino acid excretion pattern in the urine
- 6. Treatment of Hartnup Disease: • Nicotinamide for attacks • The number and severity of attacks can be reduced by maintaining good nutrition and supplementing the diet with oral niacin or niacinamide 50 to 100 mg 2 times a day. • Attacks may be treated with oral nicotinamide 20 mg once a day. • Niacin or niacinamide supplements
- 7. Thank you !