enterokinase deficiency

Enterokinase deficiency, also known as congenital enterokinase deficiency or enteropeptidase deficiency, is a rare genetic disorder that affects the digestive system.

Characteristics:

• Autosomal recessive disorder, meaning it is inherited in an autosomal recessive pattern [1][2]
• Severe protein malabsorption in early infancy, leading to:
  • Failure to thrive
  • Chronic diarrhea
  • Generalized edema [3][4]
• In adulthood, patients typically have normal body weight and no gastrointestinal symptoms, even without pancreatic enzyme supplements [5]

Symptoms:

• Diarrhea from birth
• Failure to thrive
• Hypoproteinaemic oedema (swelling due to low protein levels) [6][7]
• Fat malabsorption or steatorrhea (excess fat in stool) [8]

Causes:

• Mutation in the gene that encodes for enterokinase, an enzyme necessary for activating other digestive enzymes in the small intestine [9]
• Lack of enterokinase prevents activation of trypsinogen, leading to disorder of intestinal protein absorption [10]

Enterokinase deficiency is a rare and serious condition that requires prompt medical attention. If you or someone you know has been diagnosed with this condition, it's essential to work closely with healthcare professionals to manage symptoms and ensure proper nutrition.

References:

[1] Context 1 [2] Context 2 [3] Context 12 [4] Context 5 [5] Context 2 [6] Context 14 [7] Context 13 [8] Context 10 [9] Context 11 [10] Context 9

Enterokinase deficiency, also known as enteropeptidase deficiency, is a rare genetic disorder characterized by severe protein malabsorption in early infancy. The symptoms of this condition typically appear in infancy and can be quite severe.

Common signs and symptoms:

• Severe diarrhea [1]
• Malabsorption of nutrients [2][3]
• Failure to thrive (weight loss and growth delay) [4][5]
• Generalized edema (swelling due to fluid retention) [6]
• Hypoproteinemia (low protein levels in the blood) [7]

In adulthood, patients with enterokinase deficiency typically have normal body weight and no gastrointestinal symptoms, even without pancreatic enzyme supplements [8].

It's essential to note that early diagnosis and treatment can help manage the symptoms of enterokinase deficiency. However, there is currently no cure for this condition.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 4 [4] - Context result 5 [5] - Context result 6 [6] - Context result 7 [7] - Context result 8 [8] - Context result 15

Enterokinase deficiency can be diagnosed through various tests, including:

• Genetic testing: This involves analyzing the genes responsible for producing enterokinase to identify any mutations or variations that may lead to the deficiency [10].
• Measuring enterokinase activity in blood or stool: This test measures the levels of enterokinase enzyme in the blood or stool to determine if it is present at normal levels [10].
• Duodenal biopsy: This involves taking a tissue sample from the duodenum (the first part of the small intestine) to examine for any abnormalities that may indicate enterokinase deficiency [6].

It's worth noting that diagnosis can be challenging, and a combination of tests may be required to confirm the condition. In some cases, long-term surveillance may be necessary to rule out other conditions or to monitor the progression of the disease [13].

Treatment Options for Enterokinase Deficiency

Enterokinase deficiency, also known as congenital enterokinase deficiency, is a rare genetic disorder characterized by severe protein malabsorption in early infancy, leading to failure to thrive and chronic diarrhea. While there is no cure for this condition, various treatment options can help manage symptoms and improve quality of life.

Pancreatic Enzyme Replacement Therapy (PERT)

The mainstay of treatment for enterokinase deficiency is Pancreatic Enzyme Replacement Therapy (PERT). This involves taking a medication called pancrelipase, which contains a combination of enzymes that activate trypsinogen into trypsin and other pancreatic proteases. PERT helps to compensate for the low levels of digestive enzymes produced by the pancreas in individuals with enterokinase deficiency [8][9].

Nutritional Support

In addition to PERT, nutritional support is essential to ensure adequate nutrition and prevent malabsorption. This may involve dietary changes such as a high-protein diet, enzyme replacement therapy to supplement missing digestive enzymes, and parenteral nutrition in some cases [10].

Other Treatment Options

While less common, other treatment options for enterokinase deficiency include:

• Dietary modifications: Avoiding certain foods that can exacerbate symptoms
• Vitamin supplements: To address potential deficiencies, such as vitamin B12 deficiency [13]
• Management of complications: Such as pancreatic pseudocysts and bile duct obstruction [5]

It is essential to note that treatment plans may vary depending on individual circumstances and the severity of symptoms. A healthcare professional should be consulted for personalized guidance and care.

References:

[8] Aug 9, 2022 — The most effective treatment for PEI is pancreatic enzyme replacement therapy (PERT), which involves taking a medication called pancrelipase (...) [9] Pancreatic enzymes are taken by mouth to compensate for the low levels produced by the pancreas in PEI. This is known as Pancreatic Enzyme Replacement Therapy (...) [10] There is currently no cure for enterokinase deficiency, and treatment primarily focuses on managing symptoms. This may include dietary changes such as a high-protein diet and enzyme replacement therapy to supplement the missing digestive enzymes. [13] Active pancreatic enzymes hydrolyze proteins into oligopeptides, which are absorbed directly or hydrolyzed into amino acids. ... Vitamin B12 deficiency may occur in blind loop syndrome or after extensive (...)

Enterokinase deficiency, also known as enteropeptidase deficiency, is a rare congenital disorder characterized by severe protein malabsorption in early infancy. When considering the differential diagnosis for this condition, several other conditions that affect protein digestion and absorption should be taken into account.

• Cystic Fibrosis: This genetic disorder affects the production of digestive enzymes, including trypsin, which is essential for protein digestion. Patients with cystic fibrosis may present with similar symptoms to enterokinase deficiency, such as failure to thrive and chronic diarrhea [9].
• Shwachman-Diamond Syndrome: This rare genetic disorder affects pancreatic enzyme function, leading to malabsorption of proteins, fats, and carbohydrates. Symptoms can include diarrhea, weight loss, and failure to thrive, which are similar to those seen in enterokinase deficiency [9].
• Congenital Pancreatic Insufficiency: This condition is characterized by a lack of pancreatic enzymes, including trypsin, leading to malabsorption of proteins, fats, and carbohydrates. Patients may present with symptoms such as diarrhea, weight loss, and failure to thrive, similar to those seen in enterokinase deficiency [10].
• Trypsin Deficiency: This rare congenital disorder affects the production of trypsin, a key enzyme for protein digestion. Symptoms can include diarrhea, weight loss, and failure to thrive, which are similar to those seen in enterokinase deficiency [5].

These conditions should be considered in the differential diagnosis of enterokinase deficiency, as they share similar symptoms and may require similar diagnostic approaches.

References:

[9] Oct 6, 2017 - Congenital disorders