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Table 3 Summary of clinical, biochemical and genetic features associated with ETFDH variants of neonatal GA II

From: A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family

 Patient1Patient2Patient3
GenderMaleMaleFemale
OriginCaucasian AfrikanerKurdish originChinese
Age of onset/deathWeek 1/Day 93 months/ 34 monthsDay 1/ Day 24
Main clinical featuresIntra-uterine growth retardation
Multiple congenital anomalies:
• Cardiac lesions
• Hydronephrosis
Riboflavin unresponsive
Profound hypotonia and hepatomegaly.
White matter signal abnormalities on brain MRI
Riboflavin responsive
Poor sucking and response, fever, hypotonia, seizures
Purulent meningitis and septicemia
Routine Biochemistry
 • Metabolic acidosisPresentNot performedPresent
 • GlucoseNormal-↓↓-Normal
 • Ammonia
 • Urine ketonesAbsentNot performedNot performed
 • Lactate/pyruvateNormal-↑
Transaminases↑GGT, ASTALT↑GGT, AST, ALP↑
Creatine kinaseNot performednormalNot performed
CBC findingsPancytopeniaNot performedWhite blood cells and neutrophils↑
Metabolic findings
 Acylcarnitines↑C4-, C5, C5-DC
Low free carnitine
↑C8, C10, C12, C14
Normal free carnitine
↑C4-, C5, C5-DC, C6, C8, C10, C12, C14, C16, C18
 Organic acids↑Ethylmalonic acid, Dicarboxylic acids,
Glycine conjugates, 2-Hydroxryglutaric acid
Lactic acid, Krebs cycle intermediates
↑Glutaric acid, Dicarboxylic aciduria
2-Hydroxyglutaric acid
↑Glutaric acid, OX-2-Acetoacetic acid,
2-Hydroxy isobutyric acid-2, adipic acid, isovalanyl glycine-2,
 Amino acidsGeneral amino aciduria with ↑
Sarcosine
↑Threonine, serine, asparagine, glycine, alanine, β-aminoisobutyric acid, and lysine.↑Citrulline
 ETFDH variantsc.1067G > A/ c.1067G > Ac.1141G > C/ c.1141G > Cc.1399 G > C/ c.623_626 del
 ReferenceF.H. van der Westhuizen et al. [11]Vieira et al. [12]Our study