Glycogen storage diseases in Thai patients: Phramongkutklao Hospital experience.

There are 3 cases of liver type glycogen storage diseases. All of them presented with protruding abdomen, failure to thrive, doll face and mark hepatomegaly. Laboratory findings were hypoglycemia, metabolic acidosis, abnormal liver function test, hyperlipidemia and prolonged bleeding time in GSD Ia. GSD III has no hypoglycemia and borderline hyperuricemia. Glucagon stimulation test helps to differentiate typing. The aim of treatment is to prevent hypoglycemia, suppress lactic acid production, decrease blood lipid and uric acid levels and enhances statural growth by uncooked cornstarch. Complications such as epistaxis and suspected liver adenoma have to be closely followed up. Genetic counseling for both types GSD are autosomal recessive with recurrence risk of 25%. Prenatal diagnosis by enzymes assay or molecular diagnosi are not available in this hospital.

Menkes syndrome: a case report.

Menkes syndrome is caused by mutation of ATP7A gene that encode copper-binding membrane protein localized to the trans-Golgi membrane. Mutation of this gene causes defective exportation of copper from the cell. Intracellular accumulation of copper does not reach the toxic state, as copper entering the body is trapped in the intestinal epithelium. Copper requiring enzymes are dysfunction and cause multisystemic manifestations. The authors report a Thai boy 8 months of age who had depigmentation and kinky hair at birth. He developed myoclonic jerk at 3 months of age. He had hypopigmentation of the skin, delayed development, hypotonia, pectus excurvatum, loose skin and joints. He had anemia, very low serum copper and ceruloplasmin. X-ray showed Wormian bone of skull, osteopenia of long bones and generalized brain atrophy. The presented case has similar clinical and laboratory findings to 2 previous reports by Songkla University and Siriraj Hospital. Treatment is not effective due to unavailability of copper- histidinate and the patient already had severe brain damage. Genetic counseling is important to prevent the next offspring. Biochemical and molecular diagnosis are available for confirmation and prenatal diagnosis, but these techniques have limitations in Thailand.

Galactosemia in Thai patient at Phramongkutklao Hospital: a case report.

Galactosemia is a rare autosomal recessive disorder of galactose metabolism, which occurs as a consequence of a deficiency of one of these three enzymes: galactokinase, galactose-1-phosphate uridyltransferase, and uridine diphosphate galactose-4-epimerase, leading to elevated level of galactose and its metabolites in blood. The presented case was a 2-month-old, Thai female infant with persistent cholestatic jaundice, bilateral posterior subcapsular cataracts, and hepatomegaly. Laboratory investigations showed slightly elevated serum aminotransferase, and increased urinary excretion of galactose, galactitol and galactonate (by urine gas chromatography/mass spectrometry). These findings indicated an error in galactose metabolism. Soy-based formula was introduced to the patient. Clinical and laboratory results were improved after a few months of treatment. Genetic counseling was provided to the family for 25% of recurrence risk. Prenatal diagnosis is not established in Thailand.

Homocystinuria in Thai patient--Phramongkutklao Hospital experience.

Homocystinuria is a rare autosomal recessive disorder of amino acid metabolism. Classic (type I) homocystinuria is the most common type and occurs as a consequence of a deficiency of cystathionine-b-synthase, producing increased blood and urine homocysteine. The authors report a 15-year-old Thai male who presented with generalized tonic-clonic seizures from superior sagittal sinus thrombosis, bilateral downward subluxation of ocular lenses (ectopia lentis), Marfanoid habitus, osteoporosis, attention deficit and hyperactivity disorder. Urine metabolic screening was positive for cyanide nitroprusside test. Levels of plasma homocysteine and methionine were elevated. The clinical and laboratory findings in this case are consistent with the diagnosis of "type I" or "classical homocystinuria". The treatment was started with a low methionine diet, vitamin B6 or pyridoxine, folic acid, anticonvulsants, antithrombotic treatment and calcium supplementation. Genetic counseling was provided to the family with the recurrent risk of 25%. Definite diagnosis by enzyme assay or mutation analysis and also prenatal diagnosis are not established in Thailand.

Fragile X syndrome: Case report and review of literature.

Fragile X syndrome or X-linked mental retardation (XLMP) is one of the most common and perplexing discoveries in modern medical genetics. The association of the fragile X chromosome with mental retardation was originally described by Lubs (1969) in his report of a large kindred with XLNR. The incidence is 1 in 2000 males. It is characterized by moderately severe mental retardation in males and inducible cytogenetic marker (a fragile site) on the long arm of the X chromosome (Xq 27.3). Growth in folate-deficient media or addition of folic acid antagonist methotrexate (MTX), induces expression of fragile X. Phenotypic features include long and narrow face, prominent forehead and jaws, large protruding ears and macroorchidism. Disabilities range from varying degree of learning problems to mental retardation, severe language delay, behaviour problems, autism or autistic-like behaviour, hyperactivity, delayed motor bevelopment and poor sensory skills. Joint hypermobility, hypotonia and mitral valve prolapse are also common features. We reported an eight-year-old male who was referred for evaluation of speech problem and mental retardation. The cytogenetic study demonstrated 46, XY, fra (X) q 27.3. Exhaustive review of literature is also summarized. This is most likely first reported case of fragile X syndrome in Thailand.

The study of birth defects in the newborns at Siriraj Hospital (1990-1991).

The study of congenital malformation or birth defects in newborn infants at Siriraj Hospital from September 1990 – September 1991 found 161 newborns with congenital malformation out of 18,958 infants delivered which is 0.9 percent. These were 1.2:1 ratio of males to females. Ninety-five percent were considered malformation. Deformation, disruption and dysplasia were found to be 1.6 percent in each category. The most common malformation were musculoskeletal, central nervous system and gastrointestinal system respectively. This finding was similar to study from Children’s Hospital in 1989. Other congenital malformation was categorized differently. The etiologies of congenital malformation were as follow : 37.4 percent of unknown etiology, 36 percent were multifactorial, 12.4 percent were chromosomal, 6.1 percent were single gene disorders, 6.1 percent were teratogenesis and 2 percent were intrauterine environmental factors.