We report the first two diagnosed cases of Glutaric Aciduria Type I (GA I) in the Philippines. The diagnosis was confirmed by urinary organic acid analysis by Gas Chromatography-Mass Spectrometry (GC-MS) which showed the characteristic metabolites for GA I. Review of their clinical features showed macrocephaly, developmental delay, seizures, dystonia and choreoathetotic posturing. Cranial CT scan findings were also compatible with previously reported cases. This paper emphasizes the usefulness of locally available biochemical tools in the diagnosis of inborn errors of metabolism as well as the importance of clinical recognition of these disorders.
Human ; Male ; Female ; Child Preschool ; Infant ; MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; GENETIC DISEASES, INBORN ; METABOLISM, INBORN ERRORS ; AMINO ACID METABOLISM, INBORN ERRORS

No abstract available.
Niemann-Pick Disease, Type A*

No abstract available.
Niemann-Pick Disease, Type A*

OBJECTIVE: To investigate the genetic etiology, clinical diagnosis and treatment of a child with pancytopenia, failure to thrive and pulmonary infection. METHODS: Peripheral blood samples of the child and her parents were collected. Genomic DNA was extracted. Genetic variants associated with hematological diseases were detected by high-throughput sequencing. RESULTS: Three variants of TCN2 gene were found, one of which located in exon 5 upstream(c.581-8A>T), the parents has carried this variant; one in exon 6 (c.924_927del), the variant was originated from the mother; one in exon 7 (c.973C>T), the variant has ocurred de novo. The variants pathogenic analysis combined with clinical manifestation, pancytopenia, the increase in methylmalonic acid level and increased homocysteine, the child was diagnosed with transcobalaminIIdeficiency. The patient presented with respiratory infection, which was confirmed to be pneumocystosis by lung radioscopy and pathogenic high-throughput sequencing of broncho-alveolar lavage fluid. The patient presented with acute respiratory distress syndrome during the treatment with intramuscular injection of vitamin B CONCLUSION We reported a case of Chinese child with TCNII deficiency due to novel gene variant, and analyzed the pathogenicity of the three variants. The treatment of TCNII deficiency with cobalamin should be individualized.
Amino Acid Metabolism, Inborn Errors ; Child ; Female ; Genetic Testing ; Humans ; Rare Diseases ; Transcobalamins/genetics* ; Vitamin B 12

No abstract available.
Bernard-Soulier Syndrome* ; Prekallikrein*

Gitelman's syndrome (GS), a hereditary disease characterized by hypokalemia, hypomagnesemia, and hypocalciuria, is a salt-losing renal tubulopathy. Herein, we describe a case of a 28-year-old woman diagnosed with atypical GS accompanying chondrocalcinosis. One year ago, she presented with vomiting, hypokalemic metabolic alkalosis, and hypocalciuria, and was tested by diuretic challenge test. As a result, she was diagnosed with atypical GS with normomagnesemia and treated with spironolactone and potassium supplementation. Meanwhile, acute arthritis of the right 1st metatarsophalangeal joint occurred. On the radiographies of the knees, chondrocalcinosis was observed. To the best of our knowledge, this is the first report in Korea of GS with chondrocalcinosis. Antialdosterone therapy or magnesium supplementation is effective in preventing the progression of chondrocalcinosis; thus, early diagnosis and treatment of GS are important.
Adult ; Alkalosis ; Arthritis ; Chondrocalcinosis* ; Early Diagnosis ; Female ; Genetic Diseases, Inborn ; Gitelman Syndrome* ; Humans ; Hypokalemia ; Knee ; Korea ; Magnesium ; Metatarsophalangeal Joint ; Potassium ; Spironolactone ; Vomiting

No abstract available.
Afibrinogenemia*

Diseases of inborn errors of metabolism (IEMs) are very rare but the overall prevalence of IEMs is not low, and in the United States, about 5~10% of admitted patients have some genetic predispositions. Clinical manifestations of IEMs are very diverse, but most frequent manifestations are neurological symptoms and signs. IEMs in Korea have been underestimated because of prejudice, underdevelopment of diagnostic tools and ignorance. The Korean Pediatric Society has done a retrospective study in order to know the relative incidence of IEMs in 2001. All hospitals with over 100 beds participated in the study. The most frequent disease was Wilson disease (201 cases for 10 years) followed by phenylketonuria (98 cases for 10 years) and Hunters disease (69 cases for 10 years). Disorders of mineral metabolism were the most frequently diagnosed disease groups (252 cases for 10 years) followed by organic acidopathies (220 cases), aminoacidopathies (139 cases), mucopolysaccharidosis (131 cases), disorders of carbohydrate metabolism (84 cases), sphingolipidosis (69 cases), urea cycle disorders (39 cases), peroxisomal disorders (27 cases), porphyrias (16 cases), disorders of purine and pyrimidine metabolism (14 cases), disorders of membrane transport (13 cases), fatty acid oxidation disorders (9 cases), oligosaccharidosis (2 cases), and mucolipidosis (1 case). Clearly, Koreans are not protected from IEMs and a systematic approach is needed to make diagnosis more easy and accurate.
Brain Diseases, Metabolic, Inborn ; Carbohydrate Metabolism ; Diagnosis ; Genetic Predisposition to Disease ; Hepatolenticular Degeneration ; Humans ; Incidence ; Korea* ; Membranes ; Metabolism ; Metabolism, Inborn Errors* ; Mucolipidoses ; Mucopolysaccharidoses ; Peroxisomal Disorders ; Phenylketonurias ; Porphyrias ; Prejudice ; Prevalence ; Retrospective Studies ; Sphingolipidoses ; United States ; Urea Cycle Disorders, Inborn

No abstract available.
Anemia, Hemolytic, Congenital Nonspherocytic*

Child ; Humans ; Male ; Niemann-Pick Disease, Type C ; diagnosis ; genetics