Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

[pyruvate dehydrogenase deficiency]

Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH ) deficiency (OMIM 312170 ) due to previously undescribed mutations (Pro 250 T hr , Arg 88 Cys ) in the gene for the E 1 alpha subunit (PDHA 1 ). Taken in context with the literature , these patients suggest that acute weakness initially resembling Guillain-Barré syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH -deficient patients .

Diseases
Validation

Diseases presenting "weakness" symptom

achondroplasia

adrenomyeloneuropathy

alexander disease

aniridia

aromatase deficiency

coats disease

congenital toxoplasmosis

epidermolysis bullosa simplex

esophageal adenocarcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

focal myositis

gm1 gangliosidosis

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

locked-in syndrome

lymphangioleiomyomatosis

malignant atrophic papulosis

neuralgic amyotrophy

pendred syndrome

pleomorphic liposarcoma

pyomyositis

pyruvate dehydrogenase deficiency

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

werner syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated