Beta-ketothiolase deficiency brought with lethargy: Case report

被引：5

作者：

Arica, Vefik ^{[1
]}

Arica, Secil Gunher ^{[1
]}

Dag, Huseyin ^{[2
]}

Onur, Hatice ^{[2
]}

Obut, Omer ^{[3
]}

Gulbayzar, Sayat ^{[2
]}

机构：

[1] Mustafa Kemal Univ, Fac Med, TR-31100 Antakya, Turkey

[2] Bakirkoy Educ & Res Hosp, Istanbul, Turkey

[3] Istanbul Educ & Res Hosp, Istanbul, Turkey

来源：

HUMAN & EXPERIMENTAL TOXICOLOGY | 2011年 / 30卷 / 10期

关键词：

beta-ketothiolase deficiency; ketoacidosis; coma; 2-METHYLACETOACETYL-COA THIOLASE DEFICIENCY; INBORN ERROR; ISOLEUCINE; METABOLISM;

D O I：

10.1177/0960327110396533

中图分类号：

R99 [毒物学（毒理学）];

学科分类号：

100405 ;

摘要：

Beta-ketothiolase deficiency is a rare autosonnal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes.

引用

页码：1724 / 1727

页数：4

共 11 条

[1]

ALTINTAS B, 1992, TURKISH J PEDIATR, V34, P43

[2] PRENATAL-DIAGNOSIS IN A FAMILY WITH MITOCHONDRIAL ACETOACETYL-COENZYME A THIOLASE DEFICIENCY WITH THE USE OF THE POLYMERASE CHAIN-REACTION FOLLOWED BY THE HETERODUPLEX DETECTION METHOD [J].

FUKAO, T ;

WAKAZONO, A ;

SONG, XQ ;

YAMAGUCHI, S ;

ZACHARIAS, R ;

DONLAN, MA ;

ORII, T .

PRENATAL DIAGNOSIS, 1995, 15 (04) :363-367

[3] The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (β-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients [J].

Fukao, T ;

Scriver, CR ;

Kondo, N .

MOLECULAR GENETICS AND METABOLISM, 2001, 72 (02) :109-114

[4]

Gibson K M, 1997, J INHERIT METAB DIS, V20, P1

[5]

MITCHELL GA, 2002, METABOLIC MOL BASES, P2327

[6] β-ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency:: A frequent disease in Tunisia? [J].

Monastiri, K ;

Amri, F ;

Limam, K ;

Kaabachi, N ;

Guediche, MN .

JOURNAL OF INHERITED METABOLIC DISEASE, 1999, 22 (08) :932-A933

[7]

Rezvani I, 2004, NELSON TXB PEDIAT, P409

[8] Mitochondrial acetoacetyl-CoA thiolase (β-ketothiolase) deficiency and pregnancy [J].

Sewell, AC ;

Herwig, J ;

Wiegratz, I ;

Lehnert, W ;

Niederhoff, H ;

Song, XQ ;

Kondo, N ;

Fukao, T .

JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (04) :441-442

[9] MITOCHONDRIAL 2-METHYLACETOACETYL-COA THIOLASE DEFICIENCY - AN INBORN ERROR OF ISOLEUCINE AND KETONE-BODY METABOLISM [J].

SOVIK, O .

JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (01) :46-54

[10]

Sweetman L., 1995, METABOLIC MOL BASES, V7th, P1387

← 1 2 →