introduction: glutaric academia type i is a metabolic disorder that is caused due to deficiency of glutaryl-coa dehydrogenase. macrocephaly is a common sign in ga1, although many infants usually appear healthy at birth.   case report a 5.5 year old boy with ga1was admitted to nicu. chief compliance of patient for hospitalization was pneumonia and sepsis and he was intubated and mechanically ven...

Homocysteine and methylmalonic acid are important biomarkers for diseases associated with an impaired central nervous system (CNS). A new chemoassay utilizing coumarin-based fluorescent probe 1 to detect the levels of homocysteine is successfully implemented using Parkinson's disease (PD) patients' blood serum. In addition, a rapid identification of homocysteine and methylmalonic acid levels in...

We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. With aggressive medical management, there was complete resolution of right heart failure and pulmonary hypertension after 3 months. Pulmonary embolism is rare i...

We report the effects of methylmalonic acid (MMA) on the mitochondrial transport systems for malate, alpha-oxoglutarate, and isocitrate. MMA is shown to be a substrate for all three carrier systems, and an inhibitor of the malate-phosphate exchange carrier. The effects of MMA on the metabolism of malate, oxoglutarate, and isocitrate by rat liver mitochondria are demonstrated to be mediated by t...

Nefrologia 2014;34(4):xx 15 ed presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. Prenat Diagn 2009;29:266-70. 3. Rogé Canales M, Rodrigo Gonzalo de Liria C, Prats Viñas LJ, Vaquero Pérez M, Ribes Rubió A, Rodés Monegal M, et al. Síndrome hemolítico-urémico neonatal asociado a aciduria metilmalónica y homocistinuria. An Esp Pediatr 1996;45:97-8. 4. Menni F, Testa S, Guez...

OBJECTIVE To describe a case of vitamin B(12) deficiency with classic and rare clinical features and novel radiographic features. DESIGN Case report. SETTING Johns Hopkins Hospital neurology service. PATIENT Middle-aged man with neuropathy, myelopathy,impaired cognition, and extrapyramidal signs. RESULTS The patient had neurologic and hematologic signs of vitamin B(12) deficiency, with ...

A rapid technique suitable for routine pathology laboratories has been used to estimate methylmalonic acid excretion in a 24-hour urine collection following a 10g. valine load. Levels above 40 mg./24 hours were found only in patients with vitamin B(12) deficiency. Patients with pernicious anaemia treated more than 24 hours before urine collection and patients with other types of anaemia had met...

I . Urinary excretion of total ether-soluble acids and of methylmalonic acid was studied in rats on vitamin BI2-deficient diets with and without a vitamin Blz supplement. 2. It was shown that urinary excretion of total ether-soluble acids and methylmalonic acid was increased in vitamin R1,-deficient rats and that this increase was somewhat variable between individual animals, males and females,...