1.Mitochondrial respiratory chain disorder in two Filipino children
Chiong Mary Anne D. ; David-Padilla Carmencita
Acta Medica Philippina 2011;45(4):76-80
Mitochondrial respiratory chain disorders have very diverse manifestations and can present with any symptom, in any organ at any time. Here we describe two Filipino children confirmed to have a mitochondrial respiratory chain disorder after presenting with non-specific neurologic symptoms. The first patient had Otahara syndrome and was later on found to have complex I deficiency. The second patient had the m.8993T>G mtDNA mutation that was consistent with a Leigh phenotype.
Human
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Female
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MITOCHONDRIAL DISEASES
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NUTRITIONAL AND METABOLIC DISEASES
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METABOLIC DISEASES
2.Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) in a two-year-old Filipino child
Abacan Mary Ann R. ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):88-92
MELAS is a mitochondrial respiratory chain disorder characterized by progressive neurodegeneration associated with stroke-like episode, increased plasma lactate levels and distinctive findings on neuroimaging studies. Hence we onset of right-sided hemiplegia accompanied by lactic acidosis and CT-Scan findings of diffuse hypodensity of the cerebral white matter at the time of the stroke-like episode. The diagnosis was confirmed by mutation analysis on blood and hair which showed the typical mtDNA A3243G mutation. This is the first local report of a confirmed case of MELAS.
Human
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Female
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Child Preschool
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MELAS SYNDROME
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MUSCULOSKELETAL DISEASES
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MUSCULAR DISEASES
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MITOCHONDRIAL MYOPATHIES
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MITOCHONDRIAL ENCEPHALOMYOPATHIES
3.Genotype-phenotype correlations in Filipino patients with type 3 gaucher disease
Chiong Mary Anne D. ; Silao Catherine Lynn T.
Acta Medica Philippina 2011;45(4):30-34
Gaucher disease is an inherited glycolipid storage disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. Clinical manifestations include hepatosplenomegaly, skeletal abnormalities, anemia and thrombocytopenia. We present here the corresponding genotypes and the genotype-phenotype correlations of 3 Filipino patients. Clinical phenotypes and genotypes were documented by reviewing the charts of 3 Filipino patients
with Gaucher disease. Clinical parameters such as liver and spleen sizes, hematologic variables, disease types and response to enzyme replacement therapy were compared. Likewise, quantitative enzyme assays and mutation analysis were reviewed.
All have the type III neuronopathic Gaucher disease. Patients 1 and 2 are twin sisters who both have mild mental retardation with Patient 1 having a concomitant seizure disorder. They have the corresponding genotype of p.L444/p.P319A. Patient 3 has global developmental delay, oculomotor apraxia, pyramidal tract signs and carries the p.L444P/p.G202R/p.G202R genotype. Genotype-phenotype correlations for the 3 patients showed that their genotypes are compatible with the severe neuronopathic type of disease.
GENOTYPE
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GENETIC PHENOMENA
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PHENOTYPE
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GAUCHER DISEASE
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NERVOUS SYSTEM DISEASES
4.Two Filipino patients with 6-pyruvoyltetrahydropterin synthase deficiency.
de Dios John Karl L. ; Chiong Mary Anne D.
Acta Medica Philippina 2009;43(2):18-21
Hyperphenylalaninemia can result from defects in either the phenylalanine hydroxylase (PAH) enzyme or in the synthesis or recycling of the active pterin, tetrahydrobiopterin (BH4), which is an obligate co-factor for the PAH enzyme, as well as tyrosine hydroxylase and tryptophan hydroxylase. One of the most common causes of BH4 deficiency is a defect in the synthesis of 6-pyruvoyltetrahydropterin synthase (PTPS) enzyme. Patients present with progressive neurological disease such as mental retardation, convulsions and disturbance of tone and posture despite strict adherence to diet and good metabolic control. The authors report the first two cases of PTPS deficiency in the Philippines. Both are females with initial phenylalanine levels of more than 1300 umol/L who continued to develop neurologic deterioration despite good metabolic control and strict adherence to diet. Further investigation showed that they both had PTPS deficiency. Treatment was started with BH4, L-dopa/carbidopa, and 5-hydroxytryptophan (5HT) with concomitant significant improvements in their neurologic and developmental outcomes.
Human ; Female ; Child Preschool ; Infant ; Phenylalanine Hydroxylase ; Carbidopa ; Tyrosine 3-monooxygenase ; 5-hydroxytryptophan ; Tryptophan Hydroxylase ; Levodopa ; Sapropterin ; Intellectual Disability ; Philippines ; Phenylketonurias ; Pterins ; Seizures ; Diet ; Posture
5.Biochemical and clinical findings in the first two cases of glutaric aciduria type I in the Philippines
Fodra Esphie Grace D. ; Lanot Vanessa O. ; Balansay Lorena S. ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):70-72
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
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Male
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Female
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Child Preschool
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Infant
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MULTIPLE ACYL COENZYME A DEHYDROGENASE DEFICIENCY
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CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES
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GENETIC DISEASES, INBORN
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METABOLISM, INBORN ERRORS
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AMINO ACID METABOLISM, INBORN ERRORS
6.Biochemical findings in the first Filipino child confirmed to have nonketotic hyperglycinemia: A case report.
Fodra Esphie Grace D. ; Manliguis Judy S. ; Lopez Cristine P. ; Chiong Mary Anne D.
Acta Medica Philippina 2016;50(2):99-103
This is a report of the biochemical findings in the first diagnosed case of Nonketotic Hyperglycinemia (NKH) in the Philippines. Urine metabolic screening by high voltage electrophoresis showing grossly increased glycine necessitated confirmation of NKH. Confirmatory analysis was done by paired plasma-cerebrospinal fluid quantitative amino acid analysis using Ultrahigh Performance Liquid Chromatography (UPLC). The result was compatible with the clinical picture of the patient who presented primarily with apnea, seizures, hypotonia and lethargy. This paper emphasizes the importance of locally available biochemical genetic tests in the diagnosis of inborn errors of metabolism.
Human ; Male ; Infant Newborn ; Apnea ; Chromatography, Liquid ; Electrophoresis ; Genetic Testing ; Glycine ; Hyperglycemia ; Hyperglycinemia, Nonketotic ; Lethargy ; Muscle Hypotonia ; Philippines ; Seizures ; Urinalysis
7.Clinical profiles of hyperphenylalaninemia patients diagnosed by newborn screening
Dion-Berboso April Grace ; Abacan Mary Ann R. ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):84-87
Hyperphenylalaninemia is due to problems in phenylalanine metabolism caused by defects in phenylalanine hydroxylase enzyme and its co-factor, tetrahydrobiopterin (BH4). This paper presents a review of patients with hyperphenylalaninemia (HPA) diagnosed by Newborn Screening Center-National Institutes of Health from 1996 to 2009. Thirteen cases were diagnosed: five classical phenylketonuria (PKU), one mild PKU, three 6-pyruvoyl tetrahydrobiopterin synthase (6-PTPS) deficiency, and four mild hyperphenylalaninemia (HPA). The clinical profile of the patients highlights the importance of early diagnosis and dietary treatment, good metabolic control and regular monitoring, for better outcome.
6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY
8.Classical hemocystinuria in two Filipino patients
Abacan Mary Ann R ; Casis Roxanne J ; Capistrano-Estrada Sylvia ; Chiong Mary Anne D
Acta Medica Philippina 2011;45(4):81-83
Classical hemocystinuria is an inborn error of metabolism caused by a deficiency of cystathionine beta-synthase that converts hemocysteine to cystathionine. This then leads to elevation of hemocysteine which results in abnormalities of the eyes, skeleton, central nervous system and vascular hemocystinuria. Patient 1 presented with lens dislocation and mental retardation while Patient 2 presented with thromboembolism, mental retardation and lens dislocation. The elevated plasma hemocysteine and methionine levels lead to the diagnosis of hemocystinuria.
Human
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Male
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Child
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CYSTATHIONINE
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CYSTATHIONINE BETA-SYNTHASE
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INTELLECTUAL DISABILITY
9.Ring chromosome 10 in Filipino child: A case report and review of literature
Dion-Berboso April Grace ; Abad Lorna R. ; Esquejo Amelito L ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):66-69
We report a 12-day-old infant who presented with ambiguous genitalia, short stature, low-set ears, stubby nose, patent ductus arteriosus and ventricular septal defect. He was confirmed to have a ring chromosome 10 by cytogenetic analysis. Review of the literature showed that our patient shared common clinical manifestations with previously described cases.
Infant Newborn
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DISORDERS OF SEX DEVELOPMENT
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UROGENITAL ABNORMALITIES
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CYTOGENETIC ANALYSIS
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DIAGNOSIS
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DIAGNOSTIC TECHNIQUES AND PROCEDURES
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CLINICAL LABORATORY TECHNIQUES
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CYTOLOGICAL TECHNIQUES
10.Menkes disease mimicking non-accidental injury in a Filipino child
Dion-Berboso April Grace ; Madrid Bernadette J. ; Melendres Cerissa T. ; Chiong Mary Anne D.
Acta Medica Philippina 2011;45(4):73-75
We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. The presence of subdural bleed and skull fracture prompted a referral to the Child Protection Unit to rule out child abuse.
Human
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Male
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Female
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Adult
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Infant
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MENKES KINKY HAIR SYNDROME
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NERVOUS SYSTEM DISEASES
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CENTRAL NERVOUS SYSTEM DISEASES
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BRAIN DISEASES
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BRAIN DISEASES, METABOLIC
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BRAIN DISEASES, METABOLIC, INBORN
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CERULOPLASMIN
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COPPER