Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood

Jousserand, Guillemette; Antoine, Jean‐Christophe; Camdessanché, Jean‐Philippe

doi:10.1007/s00415-009-5358-1

Cited by 12 publications

(4 citation statements)

References 8 publications

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“…The duration of adherence to PKU diet during first 16 years of life appears to indicative of likely complications in adulthood 6. There is only one case report of late adulthood PKU diagnosis, reported as ‘Musty odour, mental retardation and spastic paraplegia revealing phenylketonuria in adulthood’,7 unfortunately the full case report is not available. Notably no previous case report has stated visual problems as sequelae of non-compliance with PKU diet.…”

Section: Discussionmentioning

confidence: 99%

Neurological improvement following reinstitution of a low phenylalanine diet after 20 years in established pnenylketonuria

Anwar¹,

Waddell

O'Riordan

2013

BMJ Case Reports

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SUMMARYA 41-year-old woman had meaningful functional improvement following reinstitution of a low phenylalanine diet. She was diagnosed at birth with phenylketonuria and followed strict dietary adherence till the age of 16. Thereafter the diet was discontinued. She subsequently presented with subacute profound visual loss, cognitive dysfunction and paraparesis such that she was bed bound requiring full nursing care. Following dietary intervention there was meaningful improvement such that she was no longer demented and while her vision remains poor she is now independent for activities of daily living. This case report suggests that consideration of reimplementation of dietary intervention is warranted even after a prolonged period of time. BACKGROUND

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Section: Discussionmentioning

confidence: 99%

Neurological improvement following reinstitution of a low phenylalanine diet after 20 years in established pnenylketonuria

Anwar¹,

Waddell

O'Riordan

2013

BMJ Case Reports

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“…We reviewed the literature and found eight published cases of PKU presenting in adulthood (online supplemental table 1). 4 7–13 The majority presented with spastic paraparesis, cognitive decline and visual disturbance, with confluent white matter abnormalities on MR brain imaging. Our patient, and half the case reports identified, were described as having a background of learning difficulties or low academic attainment.…”

Section: Discussionmentioning

confidence: 99%

A treatable inborn error of metabolism presenting in the sixth decade

Martin,

Davidson,

Murdoch

et al. 2024

BMJ Case Rep

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Phenylketonuria (PKU) is an inborn error of amino acid metabolism. If untreated, PKU can result in global developmental delay, learning difficulties or seizures. For that reason, PKU is included in the UK neonatal screening programme. We describe a patient in his sixth decade presenting with progressive cognitive decline and spasticity, in whom a diagnosis of PKU was eventually reached. We note that although we currently have a robust neonatal screening programme, this has not always been the case. Patients born before 1969 were not screened, and tests used in early screening programmes were less sensitive than those used today. This case serves as a reminder that inherited metabolic disorders may present in later life and may mimic the neurocognitive and radiological picture of other white matter syndromes.

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“…Additionally, numerous metabolic disorders are characterized by a variety of odors that are emitted from the skin. Some of these conditions include phenylketonuria [89], methionine malabsorption syndrome [13], hypermethioninemia [76], or TMAu [53].…”

Section: Sweat and Skinmentioning

confidence: 99%

Microbiota and Malodor—Etiology and Management

Mogilnicka

Bogucki²,

Ufnal

2020

IJMS

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Accumulating evidence indicates that microbiota plays a critical role in physiological processes in humans. However, it might also contribute to body malodor by producing numerous odorous molecules such as ammonia, volatile sulfur compounds or trimethylamine. Although malodor is commonly overlooked by physicians, it constitutes a major problem for many otherwise healthy people. Thus, this review aims to investigate most common causes of malodor and describe potential therapeutic options. We searched PUBMED and Google Scholar databases to identify the clinical and pre-clinical studies on bad body smell, malodor, halitosis and microbiota. Unpleasant smell might originate from the mouth, skin, urine or reproductive fluids and is usually caused by odorants that are produced by resident bacterial flora. The accumulation of odorous compounds might result from diet, specific composition of microbiota, as well as compromised function of the liver, intestines and kidneys. Evidence-based guidelines for management of body malodor are lacking and no universal treatment exists. However, the alleviation of the symptoms may be achieved by controlling the diet and physical elimination of bacteria and/or accumulated odorants.

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Musty odour, mental retardation, and spastic paraplegia revealing phenylketonuria in adulthood

Cited by 12 publications

References 8 publications

Neurological improvement following reinstitution of a low phenylalanine diet after 20 years in established pnenylketonuria

Neurological improvement following reinstitution of a low phenylalanine diet after 20 years in established pnenylketonuria

A treatable inborn error of metabolism presenting in the sixth decade

Microbiota and Malodor—Etiology and Management

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