Al Aqeel et al. (1994) reported 10 Saudi children affected with 3-methylglutaconic aciduria. Seven of the patients had 3-methylglutaconic aciduria type III, while three had 3-methylglutaconic aciduria type IV. The first four patients were from the same large family. Patients 1 and 2 were siblings born to consanguineous parents, and the other two patients were also siblings, also born to consanguineous parents. The first patient was a Saudi girl. She had tonic-clonic seizures at the age of 4 months. It was also observed that she had poor vision and had not achieved any mental or motor development milestones. When she was 2 year old, her weight, length, and head circumference were median values for 5-7 months of age. She had bilateral optic atrophy, cortical fisting of both hands, greatly increased tone, and reflexes in both upper and lower limbs with Babinski sign. Her affected brother lost his visual pursuit at four months of age. Two months later he had tonic-clonic seizures. His motor and mental milestones were delayed. He had bilateral optic atrophy, poor head control, midline hypotonia, continuous polyfocal myoclonic jerks of the limbs, cortical listing of both hands, and increased tone and deep tendon reflexes in all limbs. The child died after he had a febrile illness with severe acidosis, and intractable seizures. Patient 3 was a three year old boy who presented with acute febrile disease and apneic episodes of 24-h duration. He could never sit or turn from side to side, did not hear or speak, had no visual fixation and had tonic-clonic seizures. He also had severe spastic quadriplegia, increased muscle tone, increased deep tendon reflexes, and Babinski sign. His brother had neonatal jaundice, micropenis, undescended testicles, and at the time of referral at 7-months, a urinary tract infection. He did not attain any developmental milestones. He had no vision with bilateral optic atrophy. He had tonic posturing with myoclonic jerks of the left side of the body, bilateral hemiparesis, with increased muscle tone, increased deep tendon reflexes in both lower limbs, sustained ankle clonus, and Babinski signs. Patients 5, 6 and 7 presented with neonatal acidosis. Patient 5 was a Saudi girl born to a first cousin parents, she had hypoglycemia with zero blood sugar, seizures, and neonatal jaundice on the 3rd day of life. She had not achieved any developmental milestone and had tonic-clonic seizures at the age of seven months. At nine months she had moderate scoliosis, poor but otherwise normal visual pursuit, did not hear, had diminished gag reflex, rooting-like movements of tongue, constant drooling, a frog-like posture, severe hypotonia, poor head control, bilateral cortical fisting, and increased deep tendon reflexes of both lower limbs. She died at the age of three years because she did not respond to a leucine restricted diet or to large doses of various vitamins. Patient 6 was a Saudi boy born to a first cousin parents. At two days of age, he became lethargic and floppy. He also had hypoglycemia, hyperammonemia, and acidosis. His development was normal, but slow. At the age of two years, he was social, alert, and had good visual pursuit. He had also micrognathia, gum hypertrophy, high arched palate and had severe hypotonia. Patient 7, the sister of patient 6, had sepsis, hypoglycemia, and acidosis. She had severe and early loss of developmental milestones. When she was eight years of age, she had severe microcephaly and spastic quadriplegia. She had also myoclonic seizures, severe contractures of the extremities, a deformed thoracic cage and dislocated hips, severe enamel hypoplasia, severe spastic quadriplegia, showed pseudobulbar affect, increased deep tendon reflexes, and Babinski sign.
