Genetic Information Not a rare disease but incidence is unknown. No known population at increased risk. ETF alpha subunit: 15q23-25 ETF beta subunit 19q13.3 No known common mutations. OMIM # *231680; *130410; *231675; #23168

Autosomal Recessive

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Disease Name 
GLUTARIC ACIDEMIA TYPE II (GA II) 
(GLUTARIC ACIDURIA TYPE II; GA II; ETHYLMALONIC-ADIPIC ACIDURIA; ELECTRON TRANSFER 
FLAVOPROTEIN DEHYDROGENASE DEFICIENCY; ETF/ETF QO DEFICIENCY) 
Classification:  Fatty acid oxidation defect 
Genetic Information 
Inheritance:  Autosomal recessive. 
Population 
Incidence: 
Not a rare disease but incidence is unknown. 
 
Ethnic 
Incidence:  
No known population at increased risk. 
Gene & 
Location: 
ETF alpha subunit: 15q23-25 
ETF beta subunit 19q13.3 
Common 
Mutation: 
No known common mutations. 
 
OMIM #  *231680; *130410; *231675; #231680 
Disease Information 
Symptom 
Onset: 
Newborn to adult. 
 
Symptoms:  Three different phenotypes that stay consistent within families: Neonatal onset with 
congenital anomalies: Infants often premature, present during the first 24-48 hrs of life with 
hypotonia, hepatomegaly, hypoglycemia, metabolic acidosis, sweaty feet odor, kidneys often 
palpably enlarged and cystic, facial dysmorphisms, rocker-bottom feet, muscular defects of the 
anterior abdominal wall and anomalies of the external genitalia (hypospadias and chordee). 
Virtually all die within the first week of life. 
 
Neonatal onset without anomalies: Infants develop problems within the first few days of life 
with hypotonia, tachypnea, metabolic acidosis, hepatomegaly, hypoglycemia and sweaty feet 
odor. The few who have survived beyond the first week of life have died within a few months 
usually with severe cardiomyopathy. A few others have been hypoglycemic as newborns and 
later developed typical episodes of Reye syndrome-like illness and have survived somewhat 
longer. 
 
Mild or late onset is extremely variable in its course and age at presentation but typically 
include episodes of hypoketotic hypoglycemia and hepatic dysfunction. There is progressive 
lipid storage myopathy and carnitine deficiency, and few had progressive extrapyramidal 
movement disorders similar to GAI.  There are reports of asymptomatic adults. 
Physical 
Findings: 
In the congenital form the above described dysmorphisms. 
 
Treatment:  Treatment of the severe neonatal presentations is not effective.  Mainstay therapies include 
avoidance of fasting, a diet low in fat and protein and high in carbohydrates. Riboflavin 
supplementation in the milder cases has been curative in some cases. Additional supplements of 
glycine and L-carnitine have been used. 
Natural 
History 
without 
treatment: 
Variable, depending on age at presentation and severity of symptoms. 
 
Natural 
History 
with 
Treatment may not help infants with congenital or early onset, especially if there is 
cardiomyopathy. For individuals with the milder late onset type, therapy may prevent some of 
the neurological findings and the carnitine deficiency. One infant diagnosed at birth through  
treatment:  newborn screening was alive and well at 4 years of age. 
Metabolic Information 
Missing 
Enzyme 
& Location: 
Electron Transfer Flavoprotein (ETF) or ETF-ubiquinone oxidoreductase in the mitochondria, 
affects the acyl-CoA dehydrogenases of the various chain lengths.  
MS/MS 
profile: 
C4; C5; C6; C8; C10- multiple elevations. 
C6 hexanoyl carnitine- mild elevations. 
C8 octanoyl carnitine- elevated. 
C16; C18:1- multiple elevations. 
Prenatal 
testing: 
Yes, analyte analysis of amniotic fluid or enzyme analysis of amniocytes. 
Miscellaneous 
Information: 
Urine organic acids may only be abnormal during acute episodes. The finding of 2-OH glutaric 
aciduria is useful as a diagnostic point as it distinguishes between GA I and GA II.  Been 
implicated as a cause of SIDS.  Mothers have been reported with HELLP syndrome. 
Credit:  Prepared by the North West Regional Newborn Screening Program Judith Tuerck, RN, MS, 
and Lorinda Paradise at Oregon Health Services University in Portland, Oregon and by Sara 
Copeland MD, Iowa Neonatal Metabolic Screening Program. 
Sites of 
Reference: 
National Organization for Rare Disorders - Glutaric Acidemia II 
www.rarediseases.org/search/rdbdetail_abstract.html?disname=Glutaricaciduria%20II 
 
OMIM - Glutaric Acidemia Type II 
www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?231680 
 
Glutaric Acidemia Type II, A Guide for Parents 
www.mchneighborhood.ichp.edu/pacnorgg/media/Metabolic/glut_acid_eng.pdf 
Support 
Groups: 
FOD Family Support Group 
805 Montrose Drive 
Greensboro, NC 24710 
www.fodsupport.org/ 
Deb Lee Gould (336) 547-8682 
FODgroup@aol.com 
United Mitochondrial Disease Foundation 
P.O. Box 1151 
Monroeville, PA 15146-1151 
www.umdf.org/ 
(412) 793-8077 
info@umdf.org 
 

Symptom

http://www.idph.state.ia.us/genetics/common/pdf/ga2.pdf

Symptom

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