familial hypertryptophanemia

Familial hypertryptophanemia is a rare autosomal recessive metabolic disorder characterized by elevated levels of tryptophan in the blood and urine [5]. This condition likely occurs due to abnormalities in the body's ability to process the amino acid tryptophan, which is a building block of proteins [4].

People affected by familial hypertryptophanemia may experience intellectual disability and behavioral problems, including periodic mood swings, exaggerated emotional responses, and abnormal sexual behavior [11][14]. This condition is inherited in an autosomal recessive manner, meaning that two copies of the defective gene (one from each parent) are required for a person to be born with the disorder [2].

Familial hypertryptophanemia is characterized by congenital abnormalities in tryptophan metabolism, which appear to be responsible for the elevated levels of tryptophan in the blood and urine [10][11]. This condition is rare and has been reported in only a few cases so far.

It's worth noting that familial hypertryptophanemia is a complex condition, and more research is needed to fully understand its causes and effects. However, based on the available information, it appears to be a serious genetic disorder with significant implications for affected individuals and their families.

Familial hypertryptophanemia, a rare autosomal recessive metabolic disorder, presents with several distinct signs and symptoms.

Intellectual Disability and Behavioral Problems

• Intellectual deficit is a characteristic feature of this condition [6][11][12].
• Patients may experience behavioral problems, including periodic mood swings, exaggerated emotional responses, and abnormal sexual behavior [1][5][12].

Other Anomalies

• Hypersexuality
• Perceptual hypersensitivity
• Emotional lability (mood swings)
• Hyperaggressive behavior

These symptoms can vary in severity and may be accompanied by other anomalies, such as developmental delay and intellectual disability.

Metabolic Abnormalities

• Elevated levels of tryptophan in the blood and urine [10][14]
• Massive buildup of tryptophan in the body
• Associated symptoms and tryptophanuria (tryptophan in the urine)

It is essential to note that not all patients with familial hypertryptophanemia will exhibit these symptoms, and some may be asymptomatic. However, when present, these signs and symptoms can significantly impact an individual's quality of life.

References: [1] - Search result 6 [5] - Search result 5 [10] - Search result 10 [11] - Search result 11 [12] - Search result 12 [14] - Search result 14

Based on the provided context, here are some diagnostic tests that may be relevant for familial hypertryptophanemia:

• Amino acid and organic acid analyses of plasma and urine to reveal abnormal metabolism of tryptophan [7]
• Genetic testing to identify mutations in the TDO2 gene associated with familial hypertryptophanemia [10]
• Diagnostic studies, such as blood tests and urine analysis, to detect elevated levels of tryptophan and other related compounds [9]

It's worth noting that establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis [11]. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team.

References: [7] - Amino acid and organic acid analyses of their plasma and urine revealed a novel and grossly abnormal metabolism of tryptophan. [9] - Diagnostic studies for Hypertryptophanemia [10] - available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [11] - Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis.

Based on the provided context, it appears that there are limited reports and studies on the treatment of familial hypertryptophanemia.

However, one study [4] mentions that oral antibiotic treatment to eliminate gut bacteria did not result in any reduction in the excretion of the indoleic acids. Another study [9] suggests that oral Nicotinamide was well tolerated with improvement in the photosensitive skin rash, but it does not provide information on its effectiveness in treating the condition.

It's also worth noting that there is a mention of a clinical resource [11] that provides information on familial hypertryptophanemia and its clinical features, including available genetic tests from US and labs around the world. However, this resource does not specifically discuss drug treatment options for the condition.

Unfortunately, it seems that there is limited information available on the specific drug treatment of familial hypertryptophanemia. Further research would be necessary to determine effective treatment options for this rare condition.

• Oral antibiotic treatment may not be effective in reducing indoleic acid excretion [4].
• Oral Nicotinamide may improve photosensitive skin rash, but its effectiveness in treating the condition is unknown [9].
• Limited information available on specific drug treatment options for familial hypertryptophanemia.

Familial hypertryptophanemia (FHT) is a rare genetic disorder characterized by intellectual disability, behavioral problems, and mood abnormalities. When considering the differential diagnosis for FHT, several conditions should be taken into account.

• Intellectual Disability: Individuals with FHT may exhibit intellectual disability, which can range from mild to severe. This symptom can also be present in other conditions such as Down syndrome, Fragile X syndrome, and autism spectrum disorder.
• Behavioral Problems: Behavioral problems, including mood swings, exaggerated emotional responses, and abnormal sexual behavior, are common in individuals with FHT. These symptoms can also be seen in conditions like attention deficit hyperactivity disorder (ADHD), oppositional defiant disorder, and bipolar disorder.
• Mood Abnormalities: Mood abnormalities, such as periodic mood swings, are a hallmark of FHT. However, similar symptoms can be observed in conditions like depression, anxiety disorders, and borderline personality disorder.

Other conditions that may present with similar symptoms to FHT include:

• Tryptophan Deficiency: A deficiency in tryptophan, an essential amino acid, can lead to symptoms similar to those seen in FHT.
• Kynurenine Pathway Disorders: The kynurenine pathway is involved in the metabolism of tryptophan. Disorders affecting this pathway, such as kynureninase deficiency, can present with symptoms similar to FHT.

It's essential to note that a comprehensive diagnostic evaluation, including genetic testing and biochemical analysis, is necessary to confirm the diagnosis of FHT. A thorough medical history, physical examination, and laboratory tests can help rule out other conditions and provide a definitive diagnosis.

References:

• [8] Orphanet: Hypertryptophanemia (HYPTRP)
• [9] Kanai et al. (2009): Familial hypertryptophanemia, with its associated mood abnormalities, is due to an inborn error in the normal conversion of Trp to Kyn.
• [10] Orphanet: Familial hypertryptophanemia
• [13] Autosomal recessive inheritance pattern of FHT

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