Case report: deficiency of multiple acyl-coenzyme a dehydrogenases

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Abstract

Case Presentation: L.E.S.P., 10 years-old, male, was referred to our service due to muscle weaknnes in the lower limbs 1 week ago, associated with daily vomiting with weight loss of 6 kg in 1 month. On examination, he has grade IV muscle strength and hyporreflexia in lower limbs, hip tilt, positive gowers signal, and no other changes. History of a similar condition 3 months ago with spontaneous resolution. Performed initial tests with creatine kinase (CK) 15173, lactic dehydrogenase (LD) 16600, glutamic pyruvic transaminase (GPT) 750 and glutamic oxaloacetic transaminase (GOT) 1915; magnetic resonance imaging (MRI), without alterations; electroneuromyography with a decrease in the amplitude of motor unit powers and abdominal ultrasound showing mild hepatic steatosis (grade I). Collected panel for neuromuscular disease research, positive for multiple acyl-coenzyme A dehydrogenase deficiency (MADD) or glutaric academia IIC. After 1 month the patient evolved with clinical improvement. Presenting no new events after the introduction of riboflavin.

Discussion: Deficiency of multiple acyl-CoA dehydrogenases (MADD) or glutaric acidemia IIC has an autosomal recessive inheritance and can present in 3 ways according to the gene involved. Neonatal form with congenital anomalies (type I), usually manifests with severe non-ketotic hypoglycemia, hypotonia, hepatomegaly and metabolic acidosis in the first 24 hours of life and usually evolves to death in the first week of life. Neonatal form without congenital anomalies (type II), presents onset in the first 24 to 48 hours of life with symptoms similar to type I. Mild form or late presentation (type III), manifests with chronic myopathy (intolerance to physical exercise, weakness muscular pain, myalgia), metabolic acidosis, hypoglycemia, increase in transaminases and elevation of muscle enzymes after decompensation. In addition to the different clinical forms, some features may be present, such as dysplastic or polycystic kidneys, blotter foot, hypertelorism, high forehead, low-set ears, wide anterior fontanelle, sweaty foot odor, anomalies in the external genitalia and midline hypoplasia from the face. The diagnosis is made through molecular analysis. Although there is no curative treatment, it is known that patients respond satisfactorily to the use of riboflavin.

Final Comments: In view of this situation, reaffirms itself the importance of suspecting inborn errors of metabolism in recurrent conditions that can be triggered by an infectious or metabolic condition

Publication History

Article published online:
12 May 2025