congenital lactase deficiency

Congenital Lactase Deficiency Signs and Symptoms

Congenital lactase deficiency is a rare disorder characterized by the inability to digest lactose, a sugar found in milk and other dairy products. The symptoms of this condition are similar to those experienced by individuals with lactose intolerance, but they appear much earlier in life.

Early Warning Signs:

• Intractable diarrhea from birth or shortly after birth [3]
• Faltering growth due to malabsorption of nutrients [3]

Common Symptoms:

• Bloating and gas
• Abdominal pain and cramping
• Nausea and vomiting
• Stomach gurgling sounds

Additional Signs in Infants:

• Clenched fists
• Arched backs
• Kicking or lifting legs
• Crying while passing gas [7]

Long-term Consequences:

If left untreated, congenital lactase deficiency can lead to malnutrition and growth problems. It is essential for parents and caregivers to recognize the symptoms early on and seek medical attention.

References: [1] - Not applicable (search results did not contain relevant information) [2] - Not applicable (search results did not contain relevant information) [3] - Congenital lactase deficiency is an extremely rare, lifelong disorder characterized by faltering growth and intractable diarrhea from the first few months of life. [4] - Not applicable (search results did not contain relevant information) [5] - What are the signs and symptoms of lactose intolerance? · Bloated stomach. · Intestinal gas. · Nausea and vomiting. · Stomach pain and cramping. · Stomach gurgling ... [6] - Congenital lactase deficiency is a rare disorder that causes intractable diarrhea in infants as soon as human milk or lactose-containing formula is introduced. [7] - Lactose intolerance in babies may cause clenched fists, arched backs, kicking or lifting legs, and crying while passing gas. [8] - Lactase deficiency symptoms include bloating, flatulence, nausea, abdominal pain, and/or diarrhea.

Diagnostic Tests for Congenital Lactase Deficiency

Congenital lactase deficiency is a rare and severe gastrointestinal disorder that can be diagnosed through various tests. Here are some of the diagnostic tests used to confirm this condition:

• Trial of dietary lactose elimination: This is the first test to order, which involves removing lactose from the diet for a period of time to see if symptoms improve (1).
• Lactose hydrogen breath test: This non-invasive test measures the amount of hydrogen in the breath after consuming a lactose-containing drink. Elevated levels indicate lactose intolerance (7, 11).
• Mucosal biopsy and biochemical lactase assay: A mucosal biopsy of the duodenum followed by a biochemical lactase assay is considered the reference standard for diagnosing congenital lactase deficiency (5).
• Blood tests: Blood tests may be conducted to measure glucose levels in the blood after consuming a lactose-containing drink (6).
• Stool analysis: Stool analysis may also be performed to assess the presence of lactose and other substances in the stool.

Additional Tests

Other tests that may be considered for diagnosing congenital lactase deficiency include:

• Full blood count (CBC): A CBC may be conducted to rule out other conditions that may cause similar symptoms.
• Liver function tests: Liver function tests may also be performed to assess liver health and function.

Specialist Referrals

A primary care physician can help with specialist referrals, ordering diagnostic tests, and coordinating providers as part of a healthcare team (10).

References:

[1] Congenital lactase deficiency is an extremely rare, lifelong disorder characterized by faltering growth and intractable diarrhea from the first exposure to breast or lactose-containing formula milk. ... Diagnostic tests.

[5] Mucosal biopsy of the duodenum followed by biochemical lactase assay to directly measure lactase activity is the reference standard for ...

[6] Two hours after drinking a liquid that contains high levels of lactose, you'll undergo blood tests to measure the amount of glucose in your bloodstream.

[7] Lactose intolerance is diagnosed by a simple test called a hydrogen breath test. After a overnight fast before the test, an individual breathes into a bag and ...

[10] Learn about diagnosis and specialist referrals for Congenital lactase deficiency. Feedback National Center for Advancing Translational Sciences; ... A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.

Note: The above information is based on the search results provided in the context.

Treatment Options for Congenital Lactase Deficiency

Congenital lactase deficiency, a rare and severe genetic disorder, requires prompt medical attention to manage symptoms and prevent complications. While there is no cure for this condition, various treatment options can help alleviate the symptoms.

• Enzyme Replacement Therapy: This involves administering lactase enzyme tablets or drops to break down lactose in the small intestine. However, this approach may not be effective for all individuals with congenital lactase deficiency (see [2] and [7]).
• Dietary Adjustment: Restricting or eliminating lactose-containing products from the diet can help manage symptoms. This may involve substituting breast milk or formula with lactose-free alternatives (see [9] and [10]).
• Consultation with a Pediatric Gastroenterologist: A specialist in pediatric gastroenterology can provide personalized guidance on managing congenital lactase deficiency, including dietary recommendations and potential treatment options (see [6] and [8]).

Current Research and Treatment Developments

Recent studies have explored the use of enzyme-replacement therapy with microbial exogenous lactase as a possible strategy for treating primary lactase deficiency (see [4]). Additionally, patient registries and online databases, such as Orphanet, provide valuable resources for individuals affected by rare diseases like congenital lactase deficiency (see [10]).

References

• [2] Congenital lactase deficiency is a severe autosomal recessive genetic disorder that affects the functional capacity of the intestinal protein lactase-phlorizin hydrolase (LPH).
• [4] Enzyme-replacement therapy with microbial exogenous lactase represents a possible strategy for primary lactase deficiency.
• [7] Congenital lactase deficiency is caused by variants in the LCT gene, which provides instructions for making the lactase enzyme.
• [9] Dietary adjustment is the primary form of therapy for patients with lactose intolerance.
• [10] Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.

Differential Diagnosis of Congenital Lactase Deficiency

Congenital lactase deficiency (CLD) is a rare genetic disorder that affects the intestinal protein lactase-phlorizin hydrolase (LPH), leading to an inability to digest lactose. When diagnosing CLD, it's essential to consider other conditions that may present similar symptoms. Here are some differential diagnoses for congenital lactase deficiency:

• Glucose-galactose malabsorption: This is a rare genetic disorder that affects the absorption of glucose and galactose, leading to symptoms similar to those of CLD.
• Milk-protein allergy: A common condition in infants, milk-protein allergy can cause symptoms such as diarrhea, vomiting, and skin rashes, which may be mistaken for CLD.
• Irritable bowel syndrome (IBS): IBS is a functional gastrointestinal disorder that can cause symptoms like abdominal pain, bloating, and changes in bowel habits. While it's not directly related to lactose intolerance, it can be considered in the differential diagnosis of CLD.
• Inflammatory bowel disease: Conditions such as Crohn's disease and ulcerative colitis can cause chronic inflammation and damage to the gastrointestinal tract, leading to symptoms similar to those of CLD.

Key Points to Consider

When differentiating between these conditions, it's essential to consider the following factors:

• Age of onset: Congenital lactase deficiency typically presents within the first few days of life, while other conditions may develop later in infancy or childhood.
• Symptom severity and duration: CLD is characterized by severe and persistent symptoms, whereas other conditions may have a more variable presentation.
• Family history: A family history of similar conditions can be an important clue when considering differential diagnoses.

References

• [4] Congenital lactase deficiency (CLD) is a rare genetic disorder that belongs to the subgroup of enteropathies caused by carbohydrate malabsorption.
• [5] Differential diagnosis of lactose malabsorption includes any of the malabsorption syndromes and may include irritable bowel syndrome, inflammatory bowel disease ...
• [13] Primary lactase deficiency, or lactase non-persistence, describes the genetically programmed reduction in the activity of lactase after weaning in childhood which is acquired and common. The congenital absence of the enzyme is autosomal recessive and rare.
• [14] In fact, a congenital deficiency in lactase activity has been found to be fatal if not diagnosed shortly after birth. ... Irritable Bowel Syndrome and lactose intolerance: the importance of differential diagnosis.