Multiple acyl-CoA dehydrogenase deficiency
General Information (adopted from Orphanet):
Synonyms, Signs: |
MADD GA II Glutaric acidemia type 2 Electron transfer flavoprotein ubiquinone oxidoreductase deficiency Ethylmalonic-Adipicaciduria ETFB deficiency, included ETFDH deficiency Glutaric Acidemia IIC, included ETFB deficiency EMA Glutaric Acidemia IIA, included Glutaric Acidemia II Glutaric aciduria type 2 Glutaric Acidemia IIB, included MAD deficiency ETFA deficiency ETFDH deficiency, included Glutaric Acidemia II ETFA deficiency, included Electron transfer flavoprotein deficiency Multiple FAD dehydrogenase deficiency |
Number of Symptoms | 131 |
OrphanetNr: | 26791 |
OMIM Id: |
231680
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ICD-10: |
E71.3 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | <= 0.9 of 100 000 |
Inheritance: |
Autosomal recessive 17912479 [IBIS] |
Age of onset: |
All ages 25200064 [IBIS] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Acyl-CoA dehydrogenase deficiency
-Rare genetic disease Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy -Rare cardiac disease -Rare genetic disease Muscular lipidosis -Rare genetic disease -Rare neurologic disease |
Comment:
Multiple acyl-CoA dehydrogenase deficiency (MADD), also known as glutaric acidemia Type II, is a rare autosomal recessive defect of the electron transfer flavoprotein or ubiquinone oxidoreductase, resulting in abnormal fatty acid, amino acid, and choline metabolism. This leads to the impaired metabolism and excretion of glutaric, lactic, ethylmalonic, and other organic acids leading to metabolic acidosis, hypoglycemia, and ‘‘sweaty-feet’’ odor. Neonatal-onset MADD is a rare disease, with poor prognosis (PMID:17912479). Patients with MADD fall into 3 broad clinical phenotypes: 1) neonatal onset with congenital anomalies, 2) neonatal onset without anomalies, 3) mild and/or late onset (Orphanet, May 2016). The clinical picture of late-onset forms is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic cases. Mean age at onset was 19.2 years. The mean delay between onset of symptoms and diagnosis was 3.9 years. Chronic muscular symptoms were more than twice as common as acute metabolic decompensations (85% versus 33% of patients, respectively). 20% had both acute and chronic symptoms. 5% of patients had died at a mean age of 5.8 years, while 3% of patients have remained asymptomatic until a maximum age of 14 years. The vast majority of patients carry mutations in the ETFDH gene (93%), while mutations in the ETFA (5%) and ETFB (2%) genes are the exceptions (PMID:25200064). Involved genes: ETFDH (MADD) (PMID:25200064); ETFA (MADD) (PMID:25200064); ETFB (MADD) (PMID:25200064); |
Symptom Information:
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(HPO:0030198) | Fatigable weakness of distal limb muscles | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 1 / 7739 |
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(HPO:0006543) | Cardiorespiratory arrest | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 11 / 7739 |
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(HPO:0005943) | Respiratory arrest | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 5 / 7739 |
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(HPO:0001288) | Gait disturbance | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 318 / 7739 |
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(HPO:0001958) | Nonketotic hypoglycemia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 4 / 7739 |
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(HPO:0001638) | Cardiomyopathy | Rare [IBIS] | 1.2% (n=350) | 25200064 | IBIS | 192 / 7739 |
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(HPO:0002273) | Tetraparesis | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 15 / 7739 |
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(HPO:0001262) | Somnolence | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 20 / 7739 |
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(HPO:0001733) | Pancreatitis | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 46 / 7739 |
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(HPO:0001639) | Hypertrophic cardiomyopathy | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 137 / 7739 |
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(HPO:0002524) | Cataplexy | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 8 / 7739 |
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(HPO:0030050) | Narcolepsy | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 6 / 7739 |
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(HPO:0001946) | Ketosis | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 17 / 7739 |
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(HPO:0001273) | Abnormality of the corpus callosum | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 20 / 7739 |
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(HPO:0002500) | Abnormality of the cerebral white matter | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 73 / 7739 |
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(HPO:0000969) | Edema | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 117 / 7739 |
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(HPO:0002329) | Drowsiness | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 19 / 7739 |
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(HPO:0002301) | Hemiplegia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 42 / 7739 |
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(HPO:0012734) | Ketotic hypoglycemia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 3 / 7739 |
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(HPO:0004386) | Gastrointestinal inflammation | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 5 / 7739 |
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(HPO:0001712) | Left ventricular hypertrophy | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 76 / 7739 |
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(HPO:0001644) | Dilated cardiomyopathy | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 141 / 7739 |
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(HPO:0002415) | Leukodystrophy | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 30 / 7739 |
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(HPO:0002478) | Progressive spastic quadriplegia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 7 / 7739 |
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(HPO:0002169) | Clonus | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 37 / 7739 |
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(HPO:0001257) | Spasticity | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 251 / 7739 |
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(HPO:0010307) | Stridor | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 19 / 7739 |
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(HPO:0005543) | Reduced protein C activity | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 4 / 7739 |
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(HPO:0100651) | Type I diabetes mellitus | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 44 / 7739 |
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(HPO:0002910) | Elevated hepatic transaminases | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 158 / 7739 |
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(HPO:0000486) | Strabismus | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 576 / 7739 |
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(HPO:0002300) | Mutism | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 28 / 7739 |
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(MedDRA:10051093) | Cardiopulmonary failure | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 1 / 7739 |
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(HPO:0002014) | Diarrhea | Occasional [IBIS] | 21.1% (n=350) | 25200064 | IBIS | 225 / 7739 |
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(HPO:0001824) | Weight loss | Rare [IBIS] | 4.3% (n=350) | 25200064 | IBIS | 42 / 7739 |
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(HPO:0009073) | Progressive proximal muscle weakness | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 8 / 7739 |
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(HPO:0003128) | Lactic acidosis | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 116 / 7739 |
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(HPO:0002878) | Respiratory failure | Rare [IBIS] | 1.7% (n=350) | 25200064 | IBIS | 57 / 7739 |
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(HPO:0001635) | Congestive heart failure | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 232 / 7739 |
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(HPO:0003690) | Limb muscle weakness | Rare [IBIS] | 2% (n=350) | 25200064 | IBIS | 41 / 7739 |
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(HPO:0001410) | Decreased liver function | Rare [IBIS] | 1.2% (n=350) | 25200064 | IBIS | 59 / 7739 |
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(HPO:0002829) | Arthralgia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 79 / 7739 |
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(HPO:0003551) | Difficulty climbing stairs | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 23 / 7739 |
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(HPO:0011675) | Arrhythmia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 226 / 7739 |
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(HPO:0003236) | Elevated serum creatine phosphokinase | Rare [IBIS] | 7.1% (n=350) | 25200064 | IBIS | 214 / 7739 |
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(HPO:0001663) | Ventricular fibrillation | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 35 / 7739 |
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(HPO:0001249) | Intellectual disability | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 1089 / 7739 |
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(HPO:0002885) | Medulloblastoma | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 20 / 7739 |
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(HPO:0001508) | Failure to thrive | Rare [IBIS] | 1.2% (n=350) | 25200064 | IBIS | 454 / 7739 |
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(HPO:0001337) | Tremor | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 200 / 7739 |
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(OMIM) | Febrile illness | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 2 / 7739 |
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(HPO:0001945) | Fever | Rare [IBIS] | 1.2% (n=350) | 25200064 | IBIS | 218 / 7739 |
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(HPO:0001263) | Global developmental delay | Rare [IBIS] | 1.7% (n=350) | 25200064 | IBIS | 853 / 7739 |
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(OMIM) | Hyperexcitability | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 2 / 7739 |
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(HPO:0001254) | Lethargy | Rare [IBIS] | 1.7% (n=350) | 25200064 | IBIS | 104 / 7739 |
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(HPO:0005216) | Chewing difficulties | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 6 / 7739 |
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(HPO:0002094) | Dyspnea | Rare [IBIS] | 1.2% (n=350) | 25200064 | IBIS | 132 / 7739 |
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(HPO:0003394) | Muscle cramps | Rare [IBIS] | 1.2% (n=350) | 25200064 | IBIS | 106 / 7739 |
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(HPO:0002017) | Nausea and vomiting | Rare [IBIS] | 1.2% (n=350) | 25200064 | IBIS | 134 / 7739 |
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(HPO:0012075) | Personality disorder | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 4 / 7739 |
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(HPO:0002315) | Headache | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 175 / 7739 |
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(HPO:0000708) | Behavioral abnormality | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 212 / 7739 |
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(HPO:0001250) | Seizures | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 1245 / 7739 |
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(HPO:0006957) | Loss of ability to walk | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 7 / 7739 |
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(HPO:0001350) | Slurred speech | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 16 / 7739 |
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(HPO:0002066) | Gait ataxia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 327 / 7739 |
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(HPO:0200085) | Limb tremor | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 6 / 7739 |
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(HPO:0000716) | Depression | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 99 / 7739 |
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(HPO:0002445) | Tetraplegia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 26 / 7739 |
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(HPO:0009058) | Increased muscle lipid content | Rare [IBIS] | 3.1% (n=350) | 25200064 | IBIS | 6 / 7739 |
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(OMIM) | Lipid storage myopathy | Rare [IBIS] | 3.4% (n=350) | 25200064 | IBIS | 4 / 7739 |
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(HPO:0001270) | Motor delay | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 322 / 7739 |
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(HPO:0001259) | Coma | Rare [IBIS] | 4.6% (n=350) | 25200064 | IBIS | 65 / 7739 |
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(HPO:0003738) | Exercise-induced myalgia | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 19 / 7739 |
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(MedDRA:10002523) | Anion gap abnormal | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 1 / 7739 |
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(HPO:0001695) | Cardiac arrest | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 87 / 7739 |
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(HPO:0002015) | Dysphagia | Rare [IBIS] | 6% (n=350) | 25200064 | IBIS | 301 / 7739 |
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(HPO:0003198) | Myopathy | Rare [IBIS] | 5.4% (n=350) | 25200064 | IBIS | 151 / 7739 |
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(HPO:0003324) | Generalized muscle weakness | Rare [IBIS] | 1.4% (n=350) | 25200064 | IBIS | 48 / 7739 |
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(HPO:0003546) | Exercise intolerance | Occasional [IBIS] | 16.6% (n=350) | 25200064 | IBIS | 62 / 7739 |
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(HPO:0002093) | Respiratory insufficiency | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 410 / 7739 |
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(HPO:0003201) | Rhabdomyolysis | Rare [IBIS] | 1.4% (n=350) | 25200064 | IBIS | 27 / 7739 |
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(HPO:0002039) | Anorexia | Rare [IBIS] | 0.6% (n=350) | 25200064 | IBIS | 62 / 7739 |
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(HPO:0003365) | Arthralgia of the hip | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 10 / 7739 |
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(HPO:0003418) | Back pain | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 17 / 7739 |
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(HPO:0003473) | Fatigable weakness | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 39 / 7739 |
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(HPO:0030199) | Fatigable weakness of neck muscles | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 1 / 7739 |
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(HPO:0003388) | Easy fatigability | Rare [IBIS] | 1.4% (n=350) | 25200064 | IBIS | 34 / 7739 |
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(HPO:0045045) | Elevated plasma acylcarnitine levels | Very frequent [IBIS] | 93.9% (n=214) | 25200064 | IBIS | 3 / 7739 |
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(HPO:0003326) | Myalgia | Occasional [IBIS] | 17.1% (n=350) | 25200064 | IBIS | 143 / 7739 |
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(HPO:0012432) | Chronic fatigue | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 5 / 7739 |
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(HPO:0005692) | Joint hyperflexibility | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 20 / 7739 |
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(HPO:0001985) | Hypoketotic hypoglycemia | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 11 / 7739 |
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(HPO:0001298) | Encephalopathy | Rare [IBIS] | 4.6% (n=350) | 25200064 | IBIS | 72 / 7739 |
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(HPO:0001919) | Acute kidney injury | 22041377 | IBIS | 21 / 7739 | ||
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(OMIM) | Acute metabolic decompensation | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 2 / 7739 |
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(HPO:0002572) | Episodic vomiting | Rare [IBIS] | 9.4% (n=350) | 25200064 | IBIS | 12 / 7739 |
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(HPO:0002018) | Nausea | Rare [IBIS] | 2.4% (n=350) | 25200064 | IBIS | 44 / 7739 |
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(HPO:0002013) | Vomiting | Occasional [IBIS] | 37.1% (n=350) | 25200064 | IBIS | 191 / 7739 |
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(HPO:0002089) | Pulmonary hypoplasia | 11746129 | IBIS | 80 / 7739 | ||
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(HPO:0002098) | Respiratory distress | Rare [IBIS] | 0.6% (n=350) | 11746129 | IBIS | 75 / 7739 |
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(HPO:0003530) | Glutaric acidemia | Very frequent [IBIS] | 17912479 | IBIS | 2 / 7739 | |
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(HPO:0001942) | Metabolic acidosis | Frequent [IBIS] | 17912479 | IBIS | 81 / 7739 | |
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(HPO:0011015) | Abnormality of blood glucose concentration | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 1 / 7739 |
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(HPO:0001943) | Hypoglycemia | Occasional [IBIS] | 7.7% (n=350) | 25200064 | IBIS | 131 / 7739 |
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(HPO:0010892) | Abnormality of branched chain family amino acid metabolism | Frequent [IBIS] | 11746129 | IBIS | 2 / 7739 | |
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(HPO:0003490) | Defective dehydrogenation of isovaleryl CoA and butyryl CoA | 11746129 | IBIS | 1 / 7739 | ||
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(HPO:0003219) | Ethylmalonic aciduria | Frequent [IBIS] | 25200064 | IBIS | 5 / 7739 | |
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(HPO:0003150) | Glutaric aciduria | Frequent [IBIS] | 25200064 | IBIS | 7 / 7739 | |
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(HPO:0001640) | Cardiomegaly | 17912479 | IBIS | 81 / 7739 | ||
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(HPO:0003647) | Electron transfer flavoprotein-ubiquinone oxidoreductase defect | Very frequent [IBIS] | 17912479 | IBIS | 2 / 7739 | |
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(HPO:0001397) | Hepatic steatosis | 17912479 | IBIS | 75 / 7739 | ||
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(HPO:0001987) | Hyperammonemia | Rare [IBIS] | 3.4% (n=350) | 25200064 | IBIS | 50 / 7739 |
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(HPO:0001252) | Muscular hypotonia | 6862997 | IBIS | 990 / 7739 | ||
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(HPO:0001290) | Generalized hypotonia | 25200064 | IBIS | 51 / 7739 | ||
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(HPO:0001324) | Muscle weakness | Frequent [IBIS] | 45.4% (n=350) | 25200064 | IBIS | 859 / 7739 |
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(HPO:0001325) | Hypoglycemic coma | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 9 / 7739 |
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(HPO:0000348) | High forehead | 11420420 | IBIS | 157 / 7739 | ||
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(HPO:0000260) | Wide anterior fontanel | 11420420 | IBIS | 55 / 7739 | ||
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(HPO:0002240) | Hepatomegaly | Occasional [IBIS] | 8.6% (n=350) | 25200064 | IBIS | 467 / 7739 |
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(HPO:0006582) | Reye syndrome-like episodes | Rare [IBIS] | 2.3% (n=350) | 25200064 | IBIS | 5 / 7739 |
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(HPO:0000078) | Abnormality of the genital system | 11420420 | IBIS | 33 / 7739 | ||
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(HPO:0001999) | Abnormal facial shape | 11420420 | IBIS | 169 / 7739 | ||
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(HPO:0000091) | Abnormality of the renal tubule | 17912479 | IBIS | 15 / 7739 | ||
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(HPO:0000107) | Renal cyst | 11746129 | IBIS | 126 / 7739 | ||
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(HPO:0000113) | Polycystic kidney dysplasia | 17912479 | IBIS | 75 / 7739 | ||
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(HPO:0100520) | Oliguria | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 14 / 7739 |
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(HPO:0002919) | Ketonuria | Rare [IBIS] | 0.3% (n=350) | 25200064 | IBIS | 18 / 7739 |
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(HPO:0003811) | Neonatal death | 17912479 | IBIS | 44 / 7739 | ||
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(MedDRA:10005555) | Blood glucose decreased | Rare [IBIS] | 0.9% (n=350) | 25200064 | IBIS | 1 / 7739 |
|
(OMIM) | Neonatal acidosis | 17912479 | IBIS | 1 / 7739 |
Associated genes:
ETFDH; ETFA; ETFB; |
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|---|---|---|
ETFA | rs119458969 | pathogenic | RCV000002711.2 |
ETFA | rs119458970 | pathogenic | RCV000002712.2 |
ETFA | rs119458971 | pathogenic | RCV000002713.2 |
ETFB | rs104894677 | pathogenic | RCV000018200.28 |
ETFB | rs104894678 | pathogenic | RCV000018202.24 |
ETFDH | rs121964953 | pathogenic | RCV000012806.15 |
ETFDH | rs121964954 | pathogenic | RCV000012808.22 |
ETFDH | rs121964955 | pathogenic | RCV000024282.24 |
ETFDH | rs121964955 | pathogenic | RCV000012809.24 |
ETFDH | rs121964956 | pathogenic | RCV000012810.24 |
ETFDH | rs377656387 | pathogenic | RCV000024306.16 |
ETFDH | rs377686388 | pathogenic | RCV000180601.1 |
ETFDH | rs387907170 | pathogenic | RCV000024305.22 |
ETFDH | rs398124151 | pathogenic | RCV000173803.1 |
ETFDH | rs398124152 | pathogenic | RCV000174102.1 |
ETFDH | rs398124152 | pathogenic | RCV000198866.1 |
ETFDH | rs398124153 | pathogenic | RCV000174536.1 |
ETFDH | rs727503919 | pathogenic | RCV000174332.1 |
ETFDH | rs796051964 | pathogenic | RCV000175781.1 |
Additional Information:
Description: (OMIM) |
Glutaric aciduria II (GA II) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (231670) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of ... |
Diagnosis OMIM |
Costa et al. (1996) noted that a number of subclinical deficiencies caused by malabsorption could be misdiagnosed as inherited mitochondrial fatty acid oxidation defects. They suggested that in the presence of organic acid profiles reminiscent of a defect ... |
Clinical Description OMIM |
- Neonatal Onset In the son of healthy parents from the same small town in Turkey, Przyrembel et al. (1976) described fatal neonatal acidosis and hypoglycemia with a strong 'sweaty feet' odor. Large amounts of glutaric ... |
Genotype-Phenotype Correlations OMIM |
To examine whether the different clinical forms of MADD can be explained by different ETF/ETFDH mutations that result in different levels of residual ETF/ETFDH enzyme activity, Olsen et al. (2003) investigated the molecular genetic basis for disease development ... |
Molecular genetics OMIM |
- Glutaric aciduria IIA Indo et al. (1991), Rhead et al. (1992), and Freneaux et al. (1992) identified mutations in the ETFA gene in patients with GA IIA (e.g., 608053.0001). - Glutaric aciduria IIB ... |