ABSTRACT
Molybdenum cofactor deficiency is a rare autosomal recessive disorder with devastating neurological manifestations, characterised by neonatal-onset encephalopathy mimicking hypoxic-ischaemic insult, intractable seizure, and feeding and respiratory difficulties. It is often fatal in the early life. We report an affected 8-year-old boy, who presented with severe neurological manifestations since birth, but without clinically-significant seizure. Molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with unexplained encephalopathy in the newborn period, and whose neuroimaging findings are consistent with hypoxic ischaemic encephalopathy. The classic laboratory hallmark of this disorder is low serum uric acid, positive urine sulphite dipstick test, and elevated urinary S-sulphocysteine, hypoxanthine and xanthine.
Subject(s)
Coenzymes/deficiency , Metalloproteins/deficiency , Brain Diseases/pathology , Child , Cysteine/analogs & derivatives , Cysteine/blood , Diagnosis, Differential , Humans , Hypoxanthine/metabolism , Hypoxia/pathology , Ischemia/pathology , Malaysia , Male , Molybdenum Cofactors , Pteridines , Sulfites/urine , Uric Acid/metabolism , Xanthine/metabolismABSTRACT
Solvent abuse is deliberate sniffing of an organic solvent for the intention of altering the physiological state of the individual. It is also commonly known as glue sniffing because glue is the most commonly abused substance. This form of substance abuse is widespread throughout the world and usually popular among secondary school children and young adults because of its easy availability and it is cheaper compared with most drugs of abuse. In Malaysia this problem has been recognized especially among the children in East Malaysia. In this study, 37 children and young adults from or around Kota Kinabalu, Sabah were referred to Bukit Padang Psychiatric Hospital by the Anti-drug Task force for suspected solvent abuse. These children were interviewed using questionaire and examined physically. Blood and urine were analysed for toluene and hippuric acid. 27 of the children, age ranging between 8 and 20 years, willingly admitted to sniffing glue for a period between a few months to 2 years. Most of them were children of Fillipino illegal immigrants in Kota Kinabalu. Biochemical parameters were found to be normal. Two of them were pale with low hemoglobin and 7 had eosinophilia. Haematuria and proteinuria were found in 21 children (78%). 16 blood samples with toluene levels ranging from 0.3 to 41 microg/ml and 10 urine samples have elevated urinary hippuric acid levels ranging from 1.2 to 7.4 mg/ml. Strong positive correlation was noted between mean blood toluene levels and duration of abuse.
