Outcome of Tyrosinemia Type 1 in Indian Children

Mirani, Sonal; Poojari, Vishrutha; Shetty, Naman S; Shah, Ira

doi:10.1016/j.jceh.2020.07.002

Cited by 3 publications

(5 citation statements)

References 10 publications

(15 reference statements)

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“…Experts in this field emphasize that treatment with the drug nitisinone, also known as 2-(2-nitro-4-trifluoromethylbenzoyl) cyclohexane-1,3-dione (abbreviated as NTBC), at a dose of 1 mg/kg/day should be initiated upon suspicion of HT1, and the response to this drug is typically rapid, with clinical improvement occurring within one week [3,10]. A number of studies have demonstrated the undeniable effectiveness of this drug [11,12,14].…”

Section: Discussionmentioning

confidence: 99%

“…Lifelong monitoring for these liver complications in HT1 patients is of utmost importance. If treatment with nitisinone and a low-tyrosine diet is effective, long-term survival can be expected [3,14]. According to data from Sniderman King L. et al, a combination treatment of nitisinone and a low-tyrosine diet resulted in over 90% survival, normal growth, improved liver function, prevention of cirrhosis, correction of renal tubular acidosis, and improvement of secondary rickets [10].…”

Section: Discussionmentioning

confidence: 99%

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A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Rokaitė,

Čibirkaitė,

Zeleckytė

et al. 2024

Medicina

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Hereditary type 1 tyrosinemia (HT1) is a rare inherited autosomal recessive disorder of tyrosine metabolism, characterized by progressive liver damage, dysfunction of kidney tubules, and neurological crises. In the course of this disease, due to the deficiency of the enzyme fumarylacetoacetate hydrolase (FAH), toxic intermediate metabolites of tyrosine breakdown, such as fumarylacetoacetate (FAA), succinylacetoacetate (SAA), and succinylacetone (SA), accumulate in liver and kidney cells, causing cellular damage. Because of this, an increased SA concentration in the blood or urine is pathognomonic of HT1. In the year 2000, HT1 was diagnosed in Lithuania for the first time, and this was the first time when a specific treatment for HT1 was administered in the country. Over two decades, four cases of this disease have been diagnosed in Lithuania. In the first of these patients, the disease was diagnosed in infancy, manifesting as liver damage with liver failure. Treatment with nitisinone was initiated, which continues to be administered, maintaining normal liver function. Liver transplantation was performed on two subsequent patients due to complications of HT1. It is crucial to diagnose HT1 as early as possible in order to reduce or completely eliminate complications related to the disease, including progressive liver failure and kidney dysfunction, among others. This can only be achieved by conducting a universal newborn screening for tyrosinemia and by starting treatment with nitisinone (NTBC) before the age of 1 month in all cases of HT1. However, in those countries where this screening is not being carried out, physicians must be aware of and consider this highly rare disorder. They should be vigilant, paying attention to even minimal changes in a few specific laboratory test results—such as unexplained anemia alongside neutropenia and thrombocytopenia—and should conduct more detailed examinations to determine the causes of these changes. In this article, we present the latest clinical case of HT1 in Lithuania, diagnosed at the Children’s Diseases’ Clinic of the Lithuanian University of Health Sciences (LUHS) Hospital Kaunas Clinics. The case manifested as life-threatening acute liver failure in early childhood. This article explores and discusses the peculiarities of diagnosing this condition in the absence of universal newborn screening for tyrosinemia in the country, as well as the course, treatment, and ongoing monitoring of patients with this disorder.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Rokaitė,

Čibirkaitė,

Zeleckytė

et al. 2024

Medicina

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“…ŬƂƊƈƁƂƇſƆƟƙ ƌƂƉ I (ŧŬ-1) -ƊƟžƄƟƋƇſ ƋƉźž-Ƅƈżſ ƁźƏżƈƊƘżźƇƇƙ, ƋƉƊƂƑƂƇſƇſ ƉƈƊƍƒſƇƇƙƆ źƆƟƇƈƄƂƋƅƈƌƇƈŽƈ ƈŻƆƟƇƍ, Ɖƈż'ƙƁźƇſ Ɓ žſƎſƄƌƈƆ ƈŻƆƟƇƍ ƊſƑƈżƂƇ Ɵ ƉƈƊƍƒſƇƇƙƆ ƆſƌźŻƈƅƟƁƆƍ ƌƂƊƈƁƂƇƍ, Ɠƈ ƉƊƂƁżƈžƂƌƖ žƈ ƉſƑƟƇƄƈżƈƠ Ƈſžƈ-ƋƌźƌƇƈƋƌƟ ƟƁ ƋƍƉƍƌƇƟƆƂ ƁźƏżƈƊƘżźƇƇƙƆƂ ƇƂƊƈƄ Ɵ ƇſƊżƈżƈƠ ƋƂƋƌſƆƂ [1,5,20,21] [5,7]. ŭ 37% ƏżƈƊƂƏ, ƙƄƟ ż ƆƂƇƍƅƈƆƍ ƉſƊſƀƂƅƂ Ɗƍƃ-ƇƟżƇƟ ƍƋƄƅźžƇſƇƇƙ HT-1, żƂƇƂƄźƘƌƖ ŽſƉźƌƈƆƂ, Ɠƈ ƑźƋƌƈ ƌƊźƇƋƎƈƊƆƍƘƌƖƋƙ ż ŝŰŤ [29].…”

Section: ũżžƈżƈɗſƈƈƙunclassified

“…ŨƄƊƟƆ ŽƟƉƈƎƈƋƎźƌſƆƟƑƇƈŽƈ ƊźƏƟƌƍ ƌź źƊ-ƌſƊƟźƅƖƇƈƠ ŽƟƉſƊƌſƇƁƟƠ, ƙƄƟ ƆƈƀƍƌƖ żƂƇƂƄƇƍƌƂ Ƈź ƉƈƑźƌƄƍ ƉƊƈƐſƋƍ ƁźƏżƈƊƘżźƇƇƙ, żƟžžźƅſƇƟ ƍƋƄƅźžƇſƇƇƙ żƄƅƘƑźƘƌƖ ŽƅƈƆſƊƍƅƈƋƄƅſƊƈƁ, ƇſƎƊƈƄźƅƖƐƂƇƈƁ ƌź ƏƊƈƇƟƑƇƍ ƇƂƊƄƈżƍ ƇſžƈƋƌźƌ-ƇƟƋƌƖ [20,2428 ]. ŭ ƉźƐƟƝƇƌƟż ƟƁ HT-1 Ɗƙž żƑſƇƂƏ ƋƉƈƋƌſƊƟŽźƝ ƊƈƁżƂƌƈƄ ŽƟƉſƊƌƊƈƎƟƑƇƈƠ ƄźƊžƟƈƆƟƈ-ƉźƌƟƠ (ŝŤŦ) [3,22,25]…”

Section: ũżžƈżƈɗſƈƈƙunclassified

“…ŜƟžƈƆƟ ƌƊƂ ƌƂƉƂ ƌƂƊƈƁƂƇſƆƟƠ: ƌƂƉ 1 (hereditary infantile tyrosinemia -HT-1) ƍƊźƀƍƝ 1 Ɓ 100 000 ƈƋƟŻ ƍ żƋƖƈƆƍ ƋżƟƌƟ [1,2,8], ƌƂƉ II (ƋƂƇžƊƈƆ ŪƟƏƇſƊź-ůźƇƏźƊƌź, Richner-Hanhart syndrome) ƁƍƋƌƊƟ-ƑźƝƌƖƋƙ ż 1 Ƈź 250 000 ƈƋƟŻ [2,18], ź ƌƂƉ III Ɲ Ƈźƃ-ŻƟƅƖƒ ƊƟžƄƟƋƇƂƆ ƌƂƉƈƆ [2]. HT-1 ƌźƄƈƀ żƟžƈƆź ƙƄ ŽſƉźƌƈƊſƇźƅƖƇƂƃ ƌƂƊƈƁƂƇƈƁ, Ɲ źƍƌƈƋƈƆƇƈ-Ɗſ-ƐſƋƂżƇƂƆ ƁźƏżƈƊƘżźƇƇƙƆ, ƙƄſ ƋƉƊƂƑƂƇſƇſ žſƎƟƐƂƌƈƆ ƎƍƆźƊƂƅźƐſƌƈźƐſƌźƁƂ, Ɠƈ ƉƊƂƁżƈ-žƂƌƖ žƈ ƇźƄƈƉƂƑſƇƇƙ ƌƈƄƋƂƑƇƂƏ ƆſƌźŻƈƅƟƌƟż ƎƍƆźƊƂƅźƐſƌƈźƐſƌźƌƍ (fumarylacetoacetate -FA), ƆźƅſƟƌźƐſƌƈźƐſƌźƌƍ ƌź ƋƍƄƐƂƇƟƅźƐſƌƈƇƍ (succinylacetone -SA), ƁƍƆƈżƅƘƘƑƂ ƉƊƈŽƊſ-ƋƍƘƑſ ƍƊźƀſƇƇƙ ƉſƑƟƇƄƂ, ƋƂƇžƊƈƆƍ ŮźƇƄƈƇƟ ƌź/źŻƈ ƊźƏƟƌƍ [9,20]. HT-1 Ɔƈƀſ ŻƍƌƂ ŽƈƋƌƊƈƘ (ƉſƊƒƟ ƄƟƅƖƄź žƇƟż ƀƂƌƌƙ), ƄƈƅƂ ƈƋƇƈżƇƂƆ ƉƊƈƙżƈƆ ƏżƈƊƈŻƂ Ɲ ƉſƑƟƇƄƈżź ƇſžƈƋƌźƌƇƟƋƌƖ; ƉƟžŽƈƋƌƊƈƘ (6-12 ƆƟƋƙƐƟż), ƄƈƅƂ žƟƌƂ Ɔź-ƘƌƖ ƉſƊſżźƀƇƈ ƇƂƊƄƈżƟ ƋƂƆƉƌƈƆƂ źŻƈ ƊźƏƟƌ; Ɵ ƏƊƈƇƟƑƇƈƘ (ƑźƋƌƟƒſ ƁƍƋƌƊƟƑźƝƌƖƋƙ ż žƈƊƈƋƅƈ-Ɔƍ żƟƐƟ) [12].…”

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confidence: 99%

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Tyrosinemia type 1 in a child, experience of a hematologist. Clinical case

Dorosh¹,

Dushar²,

Masynnyk³

et al. 2022

MPU

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Tyrosinemia is a rare metabolic disease resulting from a metabolic disorder of amino acids, which can occur under the «masks» of various diseases, debut as a hemorrhagic syndrome in children of all age groups, hepatolienal syndrome, hypoglycemia, rickets-like disease, peripheral neuropathy. Clinical case. In our publication, we report on a girl at the age of 1 year 7 months who had recurrent nosebleeds, which led to a referral to a hematologist. Examination revealed hepatomegaly with impaired liver function (hypoproteinemia, long-term resistant hypoglycemia, coagulopathy) with the development of chronic liver failure, ascites and splenomegaly with signs of hypersplenism, ascites, and nephromegaly. Differential diagnostics was carried out between oncohematological process, myelodysplastic syndrome (MDS) and metabolic disease. Type 1 tyrosinemia (hereditary infantile tyrosinemia (HT-1)) was verified by a combination of clinical and biochemical, molecular genetic studies. Verification of the disease came from the spectrometry of amino acids, acylcarnitines, succinal acetates and molecular genetic studies. Molecular genetic studies in the INVITAE laboratory, USA revealed two pathogenic variants identified in the FAH gene c.1069G>T (p.Glu357*) and c.554-1G>T, which are associated with autosomal recessive tyrosinemia. The emphasis in the publication is on the differential diagnosis, the effectiveness of the treatment of this orphan disease. The method of pathogenetic therapy of HT-1 is described in detail, both with the use of the drug nitisinone (orphadin) registered in Ukraine, a special diet with a low content of phenylalanine / tyrosine, which have a pronounced positive clinical effect and prevent the formation of irreversible disabling disorders. We emphasize the need for early diagnosis of HT-1 and support the Ministry of Health of Ukraine in the initiative of routine neonatal screening for orphan diseases, which include HT-1, since timely treatment improves the quality of life in these patients. The research was carried out in accordance with the principles of the Helsinki declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors. Key words: hepatosplenomegaly, nephromegaly, tyrosinemia type 1, children.

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A rare case report of tyrosinemia type I

Matpathi

2023

SAJHS

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Tyrosinemia type I is a rare genetic disorder that occurs due to the deficiency of enzyme Fumarylacetoacetate hydrolase, resulting in elevated levels of tyrosine in the bloodstream. This case study focuses on a 4-year-old boy with a previous medical history of tyrosinemia type I, who has been admitted to the hospital multiple times due to this condition. The objective of presenting this case is to bring awareness regarding the challenges encountered while managing tyrosinemia, specifically medication adherence and dietary restrictions, which play a crucial role. This case report intends to provide education to medical professionals, healthcare advisors, family members, and caregivers about the rare and severe nature of tyrosinemia type I, while emphasising the importance of implementing an appropriate treatment strategy along with dietary modifications.

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Outcome of Tyrosinemia Type 1 in Indian Children

Cited by 3 publications

References 10 publications

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

A Lithuanian Case of Tyrosinemia Type 1 with a Literature Review: A Rare Cause of Acute Liver Failure in Childhood

Tyrosinemia type 1 in a child, experience of a hematologist. Clinical case

A rare case report of tyrosinemia type I

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