Novel HADHA Mutation Causes Mitochondrial Protein Deficiency and Neuromuscular Disease | Chapter 4 | Advanced Concepts in Medicine and Medical Research Vol. 11

Mitochondrial trifunctional protein inadequacy (MTP deficiency) is a rare inherited disorder affecting oxidation of long-chain oily acids. It typically causes severe neonatal symptoms like courage/liver disease, hypoglycemia, and metabolic acidosis. It can still gradually present with minor neuropathy, episodic rhabdomyolysis, and vision deficit. Progressive peripheral neuropathy is an irrevocable complication. We report a unique case of a 5-period-old boy with slowly decaying limb weakness. Hereditary analysis revealed a novel homozygous HADHA metamorphosis causing his MTP inadequacy, representing the first described incident in India. Exome sequencing comprehensively analyzed genes. The patient shown sensorimotor axonal neuropathy with secondary muscle disintegration, reflecting neuromyopathy. Our study provides further awareness into genotype-phenotype correlations in mitochondrial trifunctional protein deficiency.

Author(s) Details:

Amit Vatkar,
Department of Pediatrics, Seth V.C. Gandhi and M.A. Vora Municipal Rajawadi Hospital, Mumbai, Maharashtra, India.

S. Joshi Nishigandha,
Department of Pediatrics, Seth V.C. Gandhi and M.A. Vora Municipal Rajawadi Hospital, Mumbai, Maharashtra, India.

Smita Patil,
Department of Pediatrics, Seth V.C. Gandhi and M.A. Vora Municipal Rajawadi Hospital, Mumbai, Maharashtra, India.

Mumtaz Shariff,
Department of Pediatrics, D.Y. Patil Hospital, Mumbai, Maharashtra, India.

Please see the link here: https://stm.bookpi.org/ACMMR-V11/article/view/12887