Urine bile acid profile of a Japanese patient with a bile acid amidation defect

Naritaka, Nakayuki; Sakamoto, Rieko; Togawa, Takao; Kusano, Hironori; Suzuki, Mitsuyoshi

doi:10.1111/ped.15074

Cited by 3 publications

(12 citation statements)

References 5 publications

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“…Excepting CTX and secondary defects, IEBAM reported in Japan include four diseases: 3β-HSD deficiency, 5βreductase deficiency, oxysterol 7α deficiency, and BAAT deficiency. 20,21 In this review we provide details about these four diseases, which have neonatal presentations with cholestasis as the main symptom. In contrast, CTX presents later in life with tendon xanthomas and neurologic abnormalities.…”

Section: E Ba M I N Ja Pa Nmentioning

confidence: 99%

“…In BAAT deficiency, oral GCA and UDCA have been used 15,26 . In Japan, CA and GCA, unfortunately, have not been available for clinical use, so CDCA has been used for 3β‐HSD deficiency and 5β‐reductase deficiency and UDCA is given to treat BAAT deficiency 20,21 . Table 2 outlines laboratory testing and therapy for the four IEBAM diseases known to occur in Japan.…”

Section: Iebam In Japanmentioning

confidence: 99%

“…These conjugated bile acids are available for treatment as an Investigational New Drug through the US FDA, but unfortunately they have not been approved as a medical treatment in Japan. Some patients with BAAT deficiency have received UDCA together with fat‐soluble vitamin supplementation and have experienced good results 1,14,15,21,26,40 …”

Section: Iebam In Japanmentioning

confidence: 99%

“…He was 2 years and 9 months old at his most recent follow‐up visit, when he showed no manifestations of liver disorder such as pruritus or rickets. In accordance with his parents' request, no medications have been prescribed 21 …”

Section: Iebam In Japanmentioning

confidence: 99%

“…He was 2 years and 9 months old at his most recent follow-up visit, when he showed no manifestations of liver disorder such as pruritus or rickets. In accordance with his parents' request, no medications have been prescribed 21. Neonatal cholestasis has an extensive differential diagnosis apart from IEBAM, including biliary atresia, idiopathic neonatal hepatitis, Alagille syndrome, progressive familial intrahepatic cholestasis, and citrin deficiency.…”

mentioning

confidence: 99%

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Inborn errors of bile acid metabolism in Japan

Mizuochi

Takei

Nittono

et al. 2023

Pediatrics International

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Bile acids are a category of steroids biosynthesized from cholesterol in the liver. Inborn errors of their metabolism are inherited in an autosomal recessive manner, resulting in enzyme deficiencies affecting the bile acid biosynthetic pathway. These defects in the pathway cause accumulation of unusual bile acids or bile alcohols. Unusual bile acids are highly cytotoxic, causing injury to the liver. These unusual bile acids damage hepatocytes, resulting in cholestatic liver injury beginning in infancy. Except for cerebrotendinous xanthomatosis and some secondary defects, various inborn errors of bile acid metabolism (IEBAM) have been reported from Japan, affecting eight patients including three with 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase/isomerase deficiency, three with Δ4‐3‐oxosteroid 5β‐reductase deficiency, one with oxysterol 7α‐hydroxylase deficiency, and one with bile acid‐CoA: amino acid N‐acyltransferase deficiency. Distinctive laboratory findings in patients with 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase/isomerase deficiency, Δ4‐3‐oxosteroid 5β‐reductase deficiency, and oxysterol 7α‐hydroxylase deficiency include normal serum γ‐glutamyltransferase and total bile acids concentrations despite presence of cholestasis (elevated serum direct bilirubin) from infancy. Pediatricians and pediatric surgeons who suspect a case of IEBAM should obtain urinary and serum bile acid analyses using gas or liquid chromatography‐mass spectrometry as well as genetic analyses. Available treatments include oral cholic acid, chenodeoxycholic acid, glycocholic acid, and ursodeoxycholic acid; fat‐soluble vitamin supplementation; and liver transplantation. Early diagnosis and treatment can offer a good outcome.

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Section: E Ba M I N Ja Pa Nmentioning

confidence: 99%

Section: Iebam In Japanmentioning

confidence: 99%

Section: Iebam In Japanmentioning

confidence: 99%

Section: Iebam In Japanmentioning

confidence: 99%

mentioning

confidence: 99%

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Inborn errors of bile acid metabolism in Japan

Mizuochi

Takei

Nittono

et al. 2023

Pediatrics International

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Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites

Muto,

Suzuki,

Takei

et al. 2023

Molecular Genetics and Metabolism

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Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis

Nittono,

Suzuki,

Suzuki

et al. 2024

Front. Pediatr.

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Inborn errors of bile acid metabolism (IEBAM) cause cholestasis during the neonatal period, and 8 types of IEBAM have been reported to date. IEBAM accounts for approximately 2% of cases of cholestasis of unknown cause. As only 10 patients have been identified in Japan, IEBAM presents diagnostic challenges due to the similarity of clinical symptoms with biliary atresia, thus necessitating precise differentiation to avoid unnecessary invasive procedures. Laboratory tests in IEBAM are characterized by normal γ-glutamyltransferase (GGT) and serum total bile acid (STBA) levels despite the presence of cholestasis; therefore, measuring STBA and GGT is essential to distinguishing biliary atresia from IEBAM. With suspected IEBAM, liquid chromatography–mass spectrometry (LC/MS) analysis of urinary bile acids is needed to optimize diagnostic and therapeutic efficacy and avoid open cholangiography and initiate treatment for primary bile acids such as cholic acid or chenodeoxycholic acid. This prospective report aims to increase awareness of IEBAM by highlighting the characteristics of general blood test and bile acid profiles from LC/MS analyses of blood, urine, and stool samples.

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Urine bile acid profile of a Japanese patient with a bile acid amidation defect

Cited by 3 publications

References 5 publications

Inborn errors of bile acid metabolism in Japan

Inborn errors of bile acid metabolism in Japan

Dried blood spot-based newborn screening for bile acid synthesis disorders, Zellweger spectrum disorder, and Niemann-Pick type C1 by detection of bile acid metabolites

Navigating cholestasis: identifying inborn errors of bile acid metabolism for precision diagnosis

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