Pascale E. Karam
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View article: The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report
The Diagnostic Saga of a Rare Congenital Bile Acid Synthesis Disorder: A Case Report Open
Congenital bile acid synthesis disorder type 1 is an extremely rare disease with around 100 cases identified worldwide. Diagnosis remains challenging for pediatricians in view of the non-specific, variable clinical presentations of cholest…
View article: Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene
Riboflavin Transporter Deficiency Type 2: Expanding the Phenotype of the Lebanese Founder Mutation p.Gly306Arg in the SLC52A2 Gene Open
Background: Riboflavin transporter deficiency type 2 is an ultra-rare, yet treatable, inborn error of metabolism. This autosomal recessive disorder is caused by pathogenic mutations in the SLC52A2 gene leading to progressive ataxia, polyne…
View article: Seizure control in glycine encephalopathy using the Ketamine-Dextromethorphan-Sodium benzoate triple therapy
Seizure control in glycine encephalopathy using the Ketamine-Dextromethorphan-Sodium benzoate triple therapy Open
Neonatal glycine encephalopathy is a rare genetic neurometabolic disorder secondary to glycine cleavage system deficiency. Patients typically present with early-onset intractable seizures, status epilepticus and encephalopathy. Seizures co…
View article: Mitochondria and Peroxisome Crosstalk in Peroxisome Biogenesis Disorder <scp>8A</scp> Caused by a Rare Variant in <scp><i>PEX16</i></scp> Gene
Mitochondria and Peroxisome Crosstalk in Peroxisome Biogenesis Disorder <span>8A</span> Caused by a Rare Variant in <span><i>PEX16</i></span> Gene Open
Peroxisome biogenesis disorder 8A is a rare autosomal recessive disorder caused by mutations in the PEX16 gene. We report the clinical, biochemical, and molecular features of a patient harboring the homozygous NM_004813.4: c.526C>T, p.(Arg…
View article: Diagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource‐Constrained Middle Eastern Country
Diagnostic Challenges and Outcome of Classical Phenylketonuria in a Resource‐Constrained Middle Eastern Country Open
Background: Scarce data on classical phenylketonuria diagnosis and outcome in low‐income Middle Eastern countries is available. The effect of phenylketonuria diet on growth parameters is still controversial. This 15‐year retrospective stud…
View article: Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon
Diagnostic challenges and outcome of fatty acid oxidation defects in a tertiary care center in Lebanon Open
View article: Genetic literacy among primary care physicians in a resource-constrained setting
Genetic literacy among primary care physicians in a resource-constrained setting Open
Background Genetic literacy among primary healthcare providers is crucial for appropriate patient care with the advances in genetic and genomic medicine. Studies from high-income countries highlight the lack of knowledge in genetics and th…
View article: Mitochondrial depletion syndrome type 3: the Lebanese variant
Mitochondrial depletion syndrome type 3: the Lebanese variant Open
Introduction: Mitochondrial DNA depletion syndrome type 3 is an emerging disorder linked to variants in the deoxyguanosine kinase gene, which encodes for mitochondrial maintenance. This autosomal recessive disorder is frequent in the Middl…
View article: Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon
Challenges of genetic diagnosis of inborn errors of metabolism in a major tertiary care center in Lebanon Open
Background: Inborn errors of metabolism are rare genetic disorders; however, these are prevalent in countries with high consanguinity rates, like Lebanon. Patients are suspected, based on a combination of clinical and biochemical features;…
View article: Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review
Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review Open
Background: Hereditary tyrosinemia type 1 is a rare genetic disorder leading to liver cirrhosis and hepatocellular carcinoma. Few decades ago, dietary measures and ultimately liver transplant constituted the only treatment modalities. Nowa…
View article: Comb-like EEG pattern in maple syrup urine disease: A case report
Comb-like EEG pattern in maple syrup urine disease: A case report Open
View article: Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients
Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients Open
Patients and Methods: A retrospective chart review of 32 GSD- I patients, followed at the American University of Beirut Medical Center, between 2007 and 2018 was conducted. Diagnosis was confirmed by enzymatic and/or genetic studies…
View article: Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome
Pamidronate Rescue Therapy for Hypercalcemia in a Child With Williams Syndrome Open
A 15-month-old male infant diagnosed with Williams Syndrome (WS) was admitted with severe hypercalcemia and nephrocalcinosis. Intravenous hydration and furosemide failed to yield an appreciable and sustainable fall in serum calcium, while …
View article: Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon
Cost-benefit analysis: Newborn screening for inborn errors of metabolism in Lebanon Open
Objectives Few countries in the Middle East-North Africa region have adopted national newborn screening for inborn errors of metabolism by tandem mass spectrometry (MS/MS). We aimed to evaluate the cost-benefit of newborn screening for suc…