multiple mitochondrial dysfunctions syndrome 1

A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heteroz

A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13.

Signs and symptoms

• Lethargy
• Increased urine alpha-ketoglutarate concentration
• Decreased activity of mitochondrial respiratory chain
• Alpha-aminoadipic aciduria
• Respiratory failure
• Lacticaciduria
• Decreased activity of mitochondrial complex II
• Hyperglycinuria
• Episodic metabolic acidosis
• Lactic acidosis

Also known as: NFU1 deficiency