3-methylcrotonyl-coenzyme A carboxylase deficiency in Amish/Mennonite adults identified by detection of increased acylcarnitines in blood spots of their children

被引：48

作者：

Gibson, KM

Bennett, MJ

Naylor, EW

Morton, DH

机构：

[1] Baylor Univ, Med Ctr, Inst Metab Dis, Dallas, TX USA

[2] Univ Texas, SW Med Ctr, Dept Neurol, Dallas, TX 75235 USA

[3] Univ Texas, SW Med Ctr, Dept Pathol, Dallas, TX USA

[4] Neo Gen Screening, Pittsburgh, PA USA

[5] Clin Special Children, Lancaster, PA USA

来源：

JOURNAL OF PEDIATRICS | 1998年 / 132卷 / 03期

关键词：

D O I：

10.1016/S0022-3476(98)70032-0

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Isolated 3-methylcrotonyl coenzyme A carboxylase (MCC) deficiency was documented in four adult women from the Amish/Mennonite population of Lancaster County, Pennsylvania. Metabolic and enzymatic investigations in these individuals were instituted after the detection of abnormal acylcarnitine profiles in blood spots obtained from their newborn children, in whom MCC activity was normal.

引用

收藏

页码：519 / 523

页数：5

相关论文

共 13 条

[1] ISOLATED BIOTIN-RESISTANT DEFICIENCY OF 3-METHYLCROTONYL-COA CARBOXYLASE PRESENTING AS A CLINICALLY SEVERE FORM IN A NEWBORN WITH FATAL OUTCOME [J].

BANNWART, C ;

WERMUTH, B ;

BAUMGARTNER, R ;

SUORMALA, T ;

WIESMANN, UN .

JOURNAL OF INHERITED METABOLIC DISEASE, 1992, 15 (06) :863-868

[2] FAMILIAL HYPOTONIA OF CHILDHOOD CAUSED BY ISOLATED 3-METHYLCROTONYL COENZYME-A CARBOXYLASE DEFICIENCY [J].

ELPELEG, ON ;

HAVKIN, S ;

BARASH, V ;

JAKOBS, C ;

GLICK, B ;

SHALEV, RS .

JOURNAL OF PEDIATRICS, 1992, 121 (03) :407-410

[3]

Gibson K. M., 1996, Journal of Inherited Metabolic Disease, V19, P47

[4]

GIBSON KM, 1996, PHYSICIANS GUIDE LAB, P125

[5] ISOLATED (BIOTIN-RESISTANT) 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY PRESENTING AT AGE 20-MONTHS WITH SOPOR, HYPOGLYCEMIA AND KETOACIDOSIS [J].

GITZELMANN, R ;

STEINMANN, B ;

NIEDERWIESER, A ;

FANCONI, S ;

SUORMALA, T ;

BAUMGARTNER, R .

JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 :290-292

[6] ISOLATED BIOTIN-RESISTANT 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY PRESENTING AS A REYE SYNDROME-LIKE ILLNESS [J].

LAYWARD, EM ;

TANNER, MS ;

POLLITT, RJ ;

BARTLETT, K .

JOURNAL OF INHERITED METABOLIC DISEASE, 1989, 12 (03) :339-340

[7] Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency: Long-term outcome in a case with neonatal onset [J].

Lehnert, W ;

Niederhoff, H ;

Suormala, T ;

Baumgartner, ER .

EUROPEAN JOURNAL OF PEDIATRICS, 1996, 155 (07) :568-572

[8] ISOLATED (BIOTIN-RESISTANT) 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY - 4 SIBS DEVOID OF PATHOLOGY [J].

MOURMANS, J ;

BAKKEREN, J ;

DEJONG, J ;

WEVERS, R ;

VANDIGGELEN, OP ;

SUORMALA, T ;

BAUMGARTNER, R ;

WENDEL, U .

JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (05) :643-645

[9] BENIGN CLINICAL PRESENTATION OF 3-METHYLCROTONYLGLYCINURIA [J].

PEARSON, MA ;

ALECK, KA ;

HEIDENREICH, RA .

JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (05) :640-641

[10] ISOLATED 3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY IN A 16-MONTH-OLD CHILD [J].

ROLLAND, MO ;

DIVRY, P ;

ZABOT, MT ;

GUIBAUD, P ;

GOMEZ, S ;

LACHAUX, A ;

LORAS, I .

JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (05) :838-839