Acute management of propionic acidemia

被引：74

作者：

Chapman, Kimberly A. ^{[1
]}

Gropman, Andrea ^{[1
]}

MacLeod, Erin ^{[1
]}

Stagni, Kathy ^{[2
]}

Summar, Marshall L. ^{[1
]}

Ueda, Keiko ^{[3
]}

Mew, Nicholas Ah ^{[1
]}

Franks, Jill ^{[4
]}

Island, Eddie ^{[5
]}

Matern, Dietrich ^{[6
]}

Pena, Loren ^{[7
]}

Smith, Brittany ^{[4
]}

Sutton, V. Reid ^{[8
,9
]}

Urv, Tiina ^{[10
]}

Venditti, Charles ^{[10
]}

Chakrapani, Anupam ^{[11
]}

机构：

[1] Childrens Natl Med Ctr, Washington, DC 20010 USA

[2] Organ Acidemia Assoc, Pinole, CA USA

[3] Tufts Med Ctr, Boston, MA USA

[4] Propion Acidemia Fdn, Highland Pk, IL USA

[5] Georgetown Univ, Transplant Program, Washington, DC USA

[6] Mayo Clin, Rochester, MN USA

[7] Univ Illinois, Coll Med Chicago, Chicago, IL USA

[8] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[9] Texas Childrens Hosp, Houston, TX 77030 USA

[10] NIH, Bethesda, MD 20892 USA

[11] Birmingham Childrens Hosp, Birmingham, W Midlands, England

来源：

MOLECULAR GENETICS AND METABOLISM | 2012年 / 105卷 / 01期

关键词：

Propionic acidemia; Inborn error of metabolism; Organic acidemia; Treatment; Acute management; EMERGENCY CARDIOVASCULAR CARE; RESTING ENERGY-EXPENDITURE; SYRUP-URINE-DISEASE; METHYLMALONIC ACIDEMIA; L-CARNITINE; INBORN-ERRORS; CARDIOPULMONARY-RESUSCITATION; PARENTERAL-NUTRITION; METABOLIC DISEASES; SAUDI-ARABIA;

D O I：

10.1016/j.ymgme.2011.09.026

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Propionic acidemia or aciduria is an intoxication-type disorder of organic metabolism. Patients deteriorate in times of increased metabolic demand and subsequent catabolism. Metabolic decompensation can manifest with lethargy, vomiting, coma and death if not appropriately treated. On January 28-30,2011 in Washington, D.C., Children's National Medical Center hosted a group of clinicians, scientists and parental group representatives to design recommendations for acute management of individuals with propionic acidemia. Although many of the recommendations are geared toward the previously undiagnosed neonate, the recommendations for a severely metabolically decompensated individual are applicable to any known patient as well. Initial management is critical for prevention of morbidity and mortality. The following manuscript provides recommendations for initial treatment and evaluation, a discussion of issues concerning transport to a metabolic center (if patient presents to a non-metabolic center), acceleration of management and preparation for discharge.

引用

页码：16 / 25

页数：10

共 53 条

[1]

Al Essa M, 1998, CLIN GENET, V54, P90

[2] The relationship of plasma glutamine to ammonium and of glycine to acid-base balance in propionic acidaemia [J].