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Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum
Ehud Banne1, Vardiella Meiner2, Avraham Shaag2,3
1Department of Genetics and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel. ehud.banne@gmail.com.
JIMD Reports
|August 5, 2015
Summary
Transaldolase (TALDO) deficiency is a rare genetic disorder. This case highlights a novel mutation in TALDO1, expanding the known clinical spectrum of this condition.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Transaldolase (TALDO) deficiency presents with diverse clinical symptoms, including liver dysfunction, hepatosplenomegaly, anemia, thrombocytopenia, and dysmorphic features.
- Prenatal signs can include hyperechogenic bowel and intrauterine growth restriction.
Purpose of the Study:
- To report a case of Transaldolase deficiency caused by a novel homozygous mutation.
- To expand the understanding of the clinical manifestations of TALDO deficiency.
Main Methods:
- Clinical case presentation including prenatal and postnatal findings.
- Liver biopsy, urine analysis using 1H NMR, and genetic sequencing of the TALDO1 gene.
Main Results:
- The infant presented with prenatal growth restriction, postnatal intestinal obstruction, congenital thrombocytopenia, severe hypothyroidism, and neurological issues.
- Urine analysis revealed sedoheptulose accumulation, and TALDO1 sequencing identified a homozygous stop mutation (c.669C>G; p.Tyr223*).
- The patient experienced rapid liver failure leading to death.
Conclusions:
- This study describes a novel homozygous mutation in TALDO1, confirming a diagnosis of Transaldolase deficiency.
- The case broadens the clinical spectrum associated with TALDO deficiency, emphasizing its severe and multi-systemic impact.
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