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Disease	GLUTARIC ACIDURIA II
Synonym	GLUTARIC ACIDEMIA II; GLUTARIC ACIDURIA, MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD
OMIM	231680 Comprehensive, authoritative, and timely compendium of human genes and genetic phenotypes OMIM = Online Medalian Inheritance of Men
Orphanet	Short summery, also for non professionals on www.orpha.net
Enzyme	electron transfer flavoproteine (ETF), ETF-ubiquinone oxireductase, electron transfer flavoprotein dehydrogenase Detailed enzyme information on www.expacy.ch
Gene locus	15q23-q25, 19q13.3, 4q32-qter,?
genetests.org	search search on genetest.org by MIM 231680
Summary	rare autosomal recessive 3 forms: 1) neonatal onset with congenital anomalies 2) neonatal onset without congenital anomalies 3) mild form, late onset GA IIA (MIM 231680), 15q2-q25 GA IIB (MIM 130410), 19q13.3 GA IIC (MIM 231675), 4q32-qter
Clinical symptoms	Amino acids, plasma Amino acids, urine birthweight low (small for gestational age) cardiomyopathy coma dysmorphism early death hyperammonemia hypoglycemia hypospadia hypothermia hypotonia liver, fatty low set ears metabolic acidosis myopathy onset, adolescent onset, newborn Organic acids, urine pancreatitis pericardial effusion polyhydramnion (maternal) renal cysts sweaty feet odor
Abnormal Findings in blood	Ammonia Normal: 25.00-80.00 µmol/l \| Significant : 150.00-350.00 µmol/l Butyryl/Isobutyrylcarnitine (C4) \| Significant : - increased Decanoylcarnitine (C10) \| Significant : - increased Dodecanoylcarnitine (C12) \| Significant : - increased Palmitoylcarnitine (C16) \| Significant : - increased pH Normal: 7.35-7.45 no unit \| Significant : 7.00-7.40 no unit Tetradecanoylcarnitine (C14) \| Significant : - increased
Abnormal Findings in serum	Glucose, >1 d Normal: 2.80-5.00 mmol/l \| Significant : 0.50-3.00 mmol/l
Abnormal Findings in urine	2-Hydroxyglutaric acid (L) Normal: 20.00-46.00 mmol/mol creatinine \| Significant : 50.00-4300.00 mmol/mol creatinine 2-Methylbutyrylglycine Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 0.00-200.00 mmol/mol creatinine 3-Hydroxyisovaleric acid Normal: 0.00-46.00 mmol/mol creatinine \| Significant : 50.00-500.00 mmol/mol creatinine 4-Hydroxybutyric acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 130.00-7600.00 mmol/mol creatinine 5-Hydroxyhexanoic acid Normal: 0.00-7.00 mmol/mol creatinine \| Significant : - increased Acylcarnitin, urine \| Significant : - increased Adipic acid Normal: 0.00-34.30 mmol/mol creatinine \| Significant : 0.00-1600.00 mmol/mol creatinine Ethylmalonic acid \| Significant : 180.00-1150.00 mmol/mol creatinine Glutaric acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 500.00-12000.00 mmol/mol creatinine Hydroxyproline Normal: 40.00-440.00 µmol/l \| Significant : - increased Isobutyrylglycine Normal: 0.50-3.80 mmol/mol creatinine \| Significant : 0.00-200.00 mmol/mol creatinine Isovalerylglycine Normal: 1.00-10.00 mmol/mol creatinine \| Significant : 2.00-1000.00 mmol/mol creatinine Proline Normal: 0.00-110.00 mmol/mol creatinine \| Significant : - increased Sebacic acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : - increased Suberic acid Normal: 0.00-2.00 mmol/mol creatinine \| Significant : 0.00-200.00 mmol/mol creatinine
Treatment	high-carbohydrate diet low-fat diet riboflavin
Literature	There are 21 publications available. Click here to open the relevant GLUTARIC ACIDURIA II publications
Ramedis Case reports with long term followup	There are 1 patient data available. Click here to open the list of GLUTARIC ACIDURIA II patients documented in Ramedis database