Subject(s)
Hemolytic-Uremic Syndrome/diagnosis , Homocystinuria/diagnosis , Fatal Outcome , Female , Hemolytic-Uremic Syndrome/etiology , Hemolytic-Uremic Syndrome/urine , Homocystinuria/etiology , Homocystinuria/urine , Humans , Infant, Newborn , Methylmalonic Acid/urine , Vitamin B 12/metabolism , Vitamin B 12 Deficiency/complications , Vitamin B 12 Deficiency/metabolismABSTRACT
We present the results achieved with vitamin (pyridoxine and folic acid) and betaine (trimethyl-glycine) treatment of three patients with homocystinuria. Cases 1 and 2 were detected by having clinical findings suggestive of the disease (ocular and orthopedic alterations) and case 3 was diagnosed after a family metabolic screening was done. All presented a positive Brand's test and an abnormal elevation of plasma and urine homocysteine, as well as high methionine and low cystine levels in the plasma. Initially, when pyridoxine (600 mg/d) and folic acid (10 mg/d) were given for one month, a partial fall in the homocysteine levels was observed in cases 2 and 3, but not in case 1. When betaine was added (6 g/d), homocysteine disappeared from the plasma after the first month in cases 2 and 3, but only after the third month in case 1. Case 1 also showed a moderate clinical improvement in behavior and school performance. The treatment was maintained for two years in case 1, and for one year in cases 2 and 3. After betaine therapy, no disturbances were observed in the hepatic, renal and bone marrow functions, nor were there any clinically relevant ill-effects. These findings show that betaine offers a therapeutic alternative in the treatment of this disease, independent of the patient's response to pyridoxine.
Subject(s)
Betaine/therapeutic use , Folic Acid/therapeutic use , Homocystinuria/drug therapy , Pyridoxine/therapeutic use , Child , Child, Preschool , Drug Evaluation , Female , Homocysteine/blood , Homocystinuria/blood , Humans , MaleABSTRACT
The biochemical studies for the diagnosis of four cases of OCT deficiency are described: two male sibs, with total enzymatic deficiency and neonatal death, and two symptomatic heterozygous females. The enzymatic activity was determined in hepatic necropsy or duodenal biopsy from these patients and carriers were identified among their relatives. The usefulness of the enzymatic analysis compared with the protein loading test followed by the determination of ammonia and orotic acid for the female carrier detection is discussed, and the interest of their identification to prevent the risk of hyperammonemic crisis with possible neurologic sequels is stressed.
Subject(s)
Metabolism, Inborn Errors/genetics , Ornithine Carbamoyltransferase Deficiency Disease , Child, Preschool , Female , Heterozygote , Humans , Infant, Newborn , Male , Metabolism, Inborn Errors/diagnosis , X ChromosomeABSTRACT
Three patients with argininosuccinic aciduria are described. One of them is a neonatal form, with typical acute course and severe hyperammonemia who died on the sixth day of life. Postmortem analysis showed a marked plasmatic accumulation of argininosuccinic acid. Later on, red blood cell ASA-lyase levels demonstrated the heterozygosity of her parents and sisters. The two other patients are late onset forms and were diagnosed after detection of ASA and its anhydrides in plasma and urine. Levels of these metabolites did not correlate with levels of residual ASA-lyase in erythrocytes. Treatment with a hypoproteic diet supplemented with arginine has improved their clinical state. Carriers have been detected in both families. Importance of rapid diagnosis and treatment of hyperammonemic patients in order to prevent neurologic damage is emphasised.
