✦ LIBER ✦

Atypical presentation of VLCAD deficiency associated with a novel ACADVL splicing mutation

✍ Scribed by Oleg Shchelochkov; Lee-Jun Wong; Aziz Shaibani; Marwan Shinawi

Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 504 KB
Volume: 39
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.21157

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Very long chain acyl‐CoA dehydrogenase (VLCAD) deficiency is an autosomal recessive inborn error of metabolism characterized by impaired mitochondrial β‐oxidation of fatty acids with a chain length between 14 and 18 carbons. While expansion of newborn screening has improved our ability to detect VLCAD deficiency in early childhood, the late‐onset form of the disease still presents a significant diagnostic challenge. We report a 20‐year‐old female with VLCAD deficiency who first presented in infancy with hypoketotic hypoglycemia. In childhood the patient developed complex partial seizures that were aggravated by Lamotrigine treatment. The clinical course in early adulthood was complicated by recurrent, often unprovoked, episodes of rhabdomyolysis and myoglobinuria. In addition, she suffered from chronic myalgia, muscle weakness, and diffuse abdominal tenderness. A muscle biopsy revealed accumulation of fat droplets. Her acylcarnitine profile showed significantly elevated C14, C14:1, C16, and C18‐carnitines. Sequence analysis of ACADVL revealed a heterozygous recurrent mutation c.848T>C (p.V283A) and a heterozygous novel splice mutation c.879‐8T>A that results in the inclusion of six nucleotides from intron 9 into the transcript sequence. The molecular characterization of this novel mutation and its correlation with the clinical phenotype are discussed. Muscle Nerve 39: 374–382, 2009

📜 SIMILAR VOLUMES

Mild-onset presentation of Canavan's dis

Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene

✍ Christopher G. Janson; Edwin H. Kolodny; Bai-Jin Zeng; Srinivasa Raghavan; Grego 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 63 KB 👁 2 views

## Abstract We describe two sisters with a mild‐onset variant of Canavan's disease who presented at age 50 and 19 months with developmental delay but without macrocephaly, hypotonia, spasticity, or seizures. Remarkably, both patients had age‐appropriate head control, gross motor development, and mu

Progeroid facial features and lipodystro

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene

✍ Denise Horn; Peter N. Robinson 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 363 KB 👁 2 views

The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome. Mutation analysis of the fibrillin I (FBN1) gene revealed a novel heterozygous frameshift mutation at the 3' end in that patient. Here, we report o

Identification of seven novel missense m

Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency

✍ Consuelo Climent; Vicente Rubio 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

Ornithine transcarbamylase (OTC) deficiency, a X-linked disorder, is the most frequent inborn error of the urea cycle. Point mutations and small deletions/insertions in the OTC gene are responsible for the majority of the cases and have a "private"character with little recurrence. We report on eleve

Aberrant splicing of the ATM gene associ

Aberrant splicing of the ATM gene associated with shortening of the intronic mononucleotide tract in human colon tumor cell lines: A novel mutation target of microsatellite instability

✍ Yosuke Ejima; Lichun Yang; Masao S. Sasaki 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 French ⚖ 181 KB 👁 2 views

Inherited mutations of the ATM gene are responsible for the human autosomal recessive disorder ataxia-telangiectasia (A-T) characterized by pleiotropic clinical manifestations. ATM mutations are also involved in the development of sporadic human cancers such as T-cell prolymphocytic leukemia and B-c

A novel mutation of the protein C gene w

A novel mutation of the protein C gene with a frameshift deletion of 3 base pair F (3380AGG) in exon 6 in type 1 deficiency associated with arterial and venous thrombosis

✍ Takahashi, Toru; Shinohara, Kenji; Nawata, Ryohei; Wakiyama, Machiko; Hamasaki, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 3 views

TABLE I. Colony-Forming Assay From CD34 + Bone Marrow Cells Serum a BFU-E/10 2 CD34 + cells Control 1 50.2 ± 4.6 Control 2 48.5 ± 14.1 Before chemotherapy 24.4 ± 6.2 b After chemotherapy 50.5 ± 6.5 Values are means ± SD of triplicate cultures. a Control 1; normal AB serum, Control 2; serum from a pa