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Homocystinuria, Causes, Signs and Symptoms, Diagnosis and Treatment.

. Chapters 0:00 Introduction 1:36 Causes of Homocystinuria 2:25 Symptoms of Homocystinuria 3:11 Diagnosis of Homocystinuria 3:52 Treatment of Homocystinuria Homocystinuria or HCU[2] is an inherited disorder of the metabolism of the amino acid methionine due to a deficiency of cystathionine beta synthase or methionine synthase.[3] It is an inherited autosomal recessive trait, which means a child needs to inherit a copy of the defective gene from both parents to be affected. Symptoms of homocystinuria can also be caused by a deficiency of vitamins B6, B12, or folate.[3] This defect leads to a multi-systemic disorder of the connective tissue, muscles, central nervous system (CNS), and cardiovascular system. Homocystinuria represents a group of hereditary metabolic disorders characterized by an accumulation of the amino acid homocysteine in the serum and an increased excretion of homocysteine in the urine. Infants appear to be normal and early symptoms, if any are present, are vague.