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*

No abstract available.
Adrenal Hyperplasia, Congenital* ; Adrenogenital Syndrome*

No abstract available.
Acrodermatitis*

No abstract available.
Acrodermatitis*

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

No abstract available.
Afibrinogenemia*

Horseshoe kidney is a rare form of congenital renal malformation. It occurs in 0.25 to 3% of the population and is usually asymptomatic. Occurrence of symptoms is usually related to infection, lithiasis, and rarely, malignancy. Presented is a case of a 62-year old male with a one-year history of occasional painless hematuria associated with epigastric discomfort. On physical examination, a palpable mass was noted on the right periumbilical area, 10cm x 10cm in size and was non-tender. CT-scan with IV contrast showed 10cm x 7cm x 12cm mass on the right side of a horseshoe kidney. He underwent Radical Nephrectomy, right with Isthmusectomy. Post-operative course was unremarkable. Histopathology result showed Renal Cell Cacrcinoma, clear cell type.. Although malignancy was present in an anomalous kidney, the prognosis is the same as with normal kidneys. To date, this is the first reported case of malignancy on a horseshoe kidney in the Philippines.
Fused Kidney ; Carcinoma, Renal Cell

Congenital onychodysplasia of the index fingers (COIF, Iso and Kikuchi syndrome) is a congenital disorder characterized by various forms of nail dysplasias mainly-involving the index fingers. Its etiopathogenesis is still unknown, but ischemia of the palmar digital arteries has been suggested to play a role in this disorder. Although not specific to it, a Y-shaped bifurcation of the distal affected phalanx is a characteristic finding of this syndrome. In this review, we report a case of COIF who presented with bilateral micronychia with a Y-shaped bifurcation of the distal phalanx.
Arteries ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Fingers ; Ischemia ; Nails