Familial hypoketotic hypoglycaemia associated with peripheral neuropathy, pigmentary retinopathy and C6-C14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?

J Inherit Metab Dis. 1988:11 Suppl 2:183-5. doi: 10.1007/BF01804230.

Authors

B T Poll-The¹, J P Bonnefont, H Ogier, C Charpentier, A Pelet, J M Le Fur, C Jakobs, R M Kok, M Duran, P Divry, et al.

Affiliation

¹ Hôpital Enfants-Malades, Clinique Génétique Médicale, Paris, France.

PMID: 2846959
DOI: 10.1007/BF01804230

No abstract available

MeSH terms

Fatty Acids / metabolism
Female
Humans
Hydroxy Acids / urine*
Hypoglycemia / complications
Hypoglycemia / genetics*
Hypoglycemia / metabolism
Lipid Metabolism, Inborn Errors / metabolism*
Male
Oxidation-Reduction
Peripheral Nervous System Diseases / complications*
Peripheral Nervous System Diseases / metabolism
Retinal Diseases / complications*
Retinal Diseases / metabolism

Substances

Fatty Acids
Hydroxy Acids